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Gene: Pkd2 MGI:1099818

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

polycystin 2, transient receptor potential cation channel

Synonyms:

PC2, TRPP2, polycystin-2, C030034P18Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Pkd2 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 Pkd2 (2 diseases)
Human diseases predicted to be associated with Pkd2 (2535 diseases)

The table below shows human diseases associated to Pkd2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease		Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Autosomal Dominant Polycystic Kidney Disease		Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730

The table below shows human diseases predicted to be associated to Pkd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia	OMIM:600666
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Ab...	ORPHA:1909
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip...	OMIM:615382
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Campomelia, Cumming Type	Polycystic liver disease, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P...	OMIM:267010
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa...	ORPHA:2924
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma...	OMIM:615415
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst	OMIM:174050
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ...	ORPHA:446
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff...	OMIM:619462
Meckel Syndrome, Type 6	Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, H...	OMIM:612284
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ...	OMIM:618999
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem...	ORPHA:369
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria	OMIM:176090
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor...	ORPHA:400
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper...	OMIM:208500
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the k...	ORPHA:1041
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Congenital Heart Block	Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges...	ORPHA:60041
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Nephrosialidosis	Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites	OMIM:256150
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce...	OMIM:614859
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At...	ORPHA:30391
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to...	ORPHA:890
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth...	ORPHA:3156
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Renal Tubular Dysgenesis	Premature birth, Polyhydramnios, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts,...	ORPHA:3033
Fetal Parvovirus Syndrome	Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis	ORPHA:295
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi...	OMIM:619433
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Dextrocardia	OMIM:606217
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c...	OMIM:145001
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip...	ORPHA:1318
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly	ORPHA:294
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Nemaline Myopathy 9	Breech presentation, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence	OMIM:615731
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Thrombocyto...	ORPHA:464329
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Laterality Defects, Autosomal Dominant	Asplenia, Heterotaxy, Situs inversus totalis	OMIM:601086
Transaldolase Deficiency	Abnormality of the kidney, Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hep...	ORPHA:101028
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Meckel Syndrome, Type 4	Bile duct proliferation, Renal cyst	OMIM:611134
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Lethal Congenital Contracture Syndrome 6	Decreased fetal movement, Absence of stomach bubble on fetal sonography, Polyhydramnios	OMIM:616248
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C...	ORPHA:2414
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,...	ORPHA:284
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr...	OMIM:614779
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th...	ORPHA:480520
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Primary Effusion Lymphoma	Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion	ORPHA:48686
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia	ORPHA:28
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat...	OMIM:617872
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Glycogen Storage Disease Iv	Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple...	OMIM:232500
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Constipation, Vomiting, Enterocolitis	OMIM:142623
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hep...	OMIM:602579
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise...	OMIM:619858
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal...	ORPHA:163596
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Mi...	OMIM:618815
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis...	OMIM:208530
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Abn...	ORPHA:2204
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin...	OMIM:613759
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepat...	OMIM:618329
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia	OMIM:614679
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri...	ORPHA:3405
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Polyhydramnios, Fetal akinesia sequence	OMIM:300073
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia	OMIM:611884
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Nephronophthisis 18	Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers...	OMIM:615862
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Thr...	ORPHA:2123
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H...	ORPHA:90308
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis	OMIM:613861
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi...	OMIM:608836
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Congenital hepatic fibrosis, Cryptorchidism, Displaceme...	ORPHA:2377
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios, Polycystic kidney dys...	OMIM:613885
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron...	OMIM:615482
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Infantile Sialic Acid Storage Disease	Hepatomegaly, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops feta...	OMIM:269920
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Congenital Pulmonary Airway Malformation	Premature birth, Polyhydramnios	ORPHA:2444
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Ascites, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal ...	OMIM:232200
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia	OMIM:600972
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Renal cyst, Cholestasis...	OMIM:261515
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype...	OMIM:232220
Congenital Myopathy 11	Decreased fetal movement, Polyhydramnios, Breech presentation, Atrial septal defect, Patent foram...	OMIM:619967
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Hydroce...	OMIM:601927
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Sp...	ORPHA:99776
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti...	OMIM:608540
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy...	OMIM:619003
Circumvallate Placenta Syndrome	Intracranial hemorrhage, Polyhydramnios	OMIM:215550
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Hypoglossia With Situs Inversus	Asplenia, Polysplenia, Situs inversus totalis	OMIM:612776
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis, Polyhydramnios	ORPHA:1450
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria	ORPHA:67046
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom...	OMIM:193300
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic tran...	OMIM:276700
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron...	ORPHA:244
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, A...	OMIM:614702
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal...	OMIM:617205
Polyhydramnios, Chronic Idiopathic	Polyhydramnios	OMIM:263610
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi...	OMIM:278000
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj...	OMIM:617093
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Nephropathy, Ascites	ORPHA:87876
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:617577
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Meckel Syndrome	Accessory spleen, Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic f...	ORPHA:564
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis	ORPHA:140976
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposi...	OMIM:314390
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg...	OMIM:619365
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice	ORPHA:79238
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria	OMIM:606824
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi...	OMIM:214110
Hyperbiliverdinemia	Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia...	OMIM:614156
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My...	ORPHA:892
Peroxisome Biogenesis Disorder 10A (Zellweger)	Hepatomegaly	OMIM:614882
Lethal Congenital Contracture Syndrome 2	Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopath...	OMIM:607598
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S...	OMIM:266920
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Lethal Congenital Contracture Syndrome 8	Neonatal death, Decreased fetal movement, Polyhydramnios	OMIM:616287
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ...	OMIM:274150
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Bronchiectasis, Dextrocardia	OMIM:618063
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis	ORPHA:289916
Multiple Intestinal Atresia	Polyhydramnios	ORPHA:2300
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise...	OMIM:201475
Fetal Akinesia Deformation Sequence 4	Decreased fetal movement, Polyhydramnios, Cryptorchidism, Absence of stomach bubble on fetal sono...	OMIM:618393
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric...	OMIM:253250
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardia...	OMIM:219730
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth	OMIM:215045
Tracheal Agenesis	Abnormal cardiac septum morphology, Polyhydramnios	ORPHA:3346
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Duodenal stenosis	ORPHA:1759
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Premature birth, Polyhydramnios, Cryptorchidism, ...	ORPHA:2256
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia	OMIM:606763
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Polycystic kidney dysplasia	OMIM:263210
Glucose-Galactose Malabsorption	Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph...	ORPHA:35710
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d...	OMIM:218330
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function	ORPHA:79319
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction	OMIM:193250
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Orofaciodigital Syndrome I	Short stature, Proteinuria, Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Cleft pal...	OMIM:311200
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate...	OMIM:613610
Symmetrical Thalamic Calcifications	Arrhythmia, Polyhydramnios	ORPHA:1314
Cap Polyposis	Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma...	ORPHA:1046
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Dec...	ORPHA:541423
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly	ORPHA:158
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb...	ORPHA:521219
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Recurrent urinary tract infections, Renal insufficie...	OMIM:619487
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi...	ORPHA:79303
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte...	OMIM:270100
Congenital Enterovirus Infection	Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M...	ORPHA:292
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep...	ORPHA:101330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Cardiac Valvular Dysplasia 1	Edema, Hydrops fetalis, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Pulm...	OMIM:212093
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Renal...	ORPHA:1692
Nephronophthisis 15	Elevated hepatic transaminase, Nephronophthisis	OMIM:614845
Bardet-Biedl Syndrome 19	Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Hepatic steatosis, Hydronephrosis	OMIM:615996
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Fetal Gaucher Disease	Hepatomegaly, Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Splenomegaly, Abno...	ORPHA:85212
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent...	OMIM:615444
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ascites	OMIM:614091
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Polyhydramnios	OMIM:300580
Pyloric Atresia	Polyhydramnios	OMIM:265950
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,...	OMIM:618624
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast...	OMIM:619313
Spinal Muscular Atrophy, Type I	Atrial septal defect, Decreased fetal movement, Ventricular septal defect	OMIM:253300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Nephropathy, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosi...	OMIM:617056
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Cleft palate, Right aortic arch, Transposition of the great arteries, Do...	OMIM:231060
Propionic Acidemia	Hepatomegaly, Organic aciduria, Hyperammonemia	ORPHA:35
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Pancreatitis	ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 28	Decreased fetal movement, Congestive heart failure, Polyhydramnios	OMIM:616794
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hydrops fetalis, Endocardial fibroelastosis	OMIM:276822
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio...	OMIM:617021
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Dextrocardia	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal lung lobation, Abnormal he...	ORPHA:1666
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Achondrogenesis	Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios	ORPHA:932
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma...	ORPHA:555874
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok...	OMIM:619377
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Hydrops fetalis, Nephr...	ORPHA:834
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre...	OMIM:301045
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Hypospadias, Polyhydramnios, Large...	OMIM:222470
Jeune Syndrome	Nephropathy, Renal insufficiency, Abnormality of the liver, Nephronophthisis	ORPHA:474
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Autosomal Recessive Amelia	Cryptorchidism, Hypoplasia of penis, Abnormal cardiac septum morphology, Polyhydramnios	ORPHA:1027
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting	OMIM:619445
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Decreased fetal movement, Urinary incontinence, Polyhydramnios, Pericardial effusion, Multiple mu...	OMIM:620070
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect, Polyhydramnios, Renal duplication	ORPHA:96190
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu...	OMIM:619657
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration	OMIM:614876
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver	ORPHA:1980
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect, Cryptorchidism, Abnormality of the kidney, Polyhydramnios	ORPHA:466926
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Nephrotic syndrome, Focal segm...	OMIM:617303
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Micropenis...	OMIM:616897
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion, Cryptorchidism, Micropenis	OMIM:614684
Nemaline Myopathy 10	Decreased fetal movement, Premature birth, Polyhydramnios, Breech presentation, Neonatal death	OMIM:616165
Joubert Syndrome 20	Renal cyst	OMIM:614970
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios	OMIM:615476
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Babesiosis	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Hepatic failure	ORPHA:108
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Galactose Mutarotase Deficiency	Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function	ORPHA:570422
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Small Bowel Atresia	Abdominal distention, Vomiting, Feeding difficulties	ORPHA:1201
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Nemaline Myopathy 8	Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence	OMIM:615348
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Achondrogenesis Type 1B	Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios	ORPHA:93298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis,...	ORPHA:79328
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Polyhydramnios	OMIM:612138
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:230400
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Neonatal death, Polyhydramnios, Fetal akinesia sequence	OMIM:619602
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Pancreatitis, Hyperammonemia	ORPHA:27
Craniofaciofrontodigital Syndrome	Persistent fetal circulation, Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Pontocerebellar Hypoplasia, Type 1E	Polyhydramnios	OMIM:619303
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Mu-Heavy Chain Disease	Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly	ORPHA:100024
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurg...	OMIM:614866
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility...	OMIM:613662
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,...	OMIM:619123
Nephronophthisis	Renal insufficiency	ORPHA:655
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly	ORPHA:46532
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Hematuria, H...	OMIM:185070
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614727
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Lethal Congenital Contracture Syndrome 7	Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence	OMIM:616286
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Hydrocele testis, Single umbil...	OMIM:620244
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Achondrogenesis Type 1A	Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios	ORPHA:93299
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Edema of the dorsum of feet, Ventricular septal defect, ...	OMIM:274000
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio...	OMIM:618892
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha...	ORPHA:2750
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas...	OMIM:613658
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A...	ORPHA:1330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Joubert Syndrome 18	Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia, Intra...	OMIM:614815
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd...	OMIM:256300
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increase...	ORPHA:261344
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co...	OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr...	OMIM:619484
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Transaldolase Deficiency	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Hepatosplenomegaly,...	OMIM:606003
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hyperten...	ORPHA:367
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Primary Sclerosing Cholangitis	Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega...	ORPHA:171
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Polyhydramnios, Endocardial fibroelastosis	OMIM:600559
Athyreosis	Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Decreased fetal movement, Patent foramen ovale, Premature birth, Polyhydramnios	OMIM:616867
Boomerang Dysplasia	Cryptorchidism, Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydra...	ORPHA:1263
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Hypertrophic cardiomyopathy, Mitral re...	OMIM:615355
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Nephrocalcinosis, Congestive heart failure, Polyhydramnios	ORPHA:500533
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Hepatic cysts	OMIM:617425
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Microvillus Inclusion Disease	Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology	ORPHA:2290
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte...	OMIM:618280
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly	ORPHA:2432
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Abnormal aortic morphology...	ORPHA:1166
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, He...	ORPHA:91138
Trisomy 13	Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Hydrops fetalis, Multiple r...	ORPHA:3378
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p...	OMIM:249000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h...	ORPHA:254534
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion...	ORPHA:26793
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ...	OMIM:239850
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Visceral Myopathy 1	Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal...	OMIM:155310
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease...	OMIM:614922
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Tyshchenko Syndrome	Ventricular septal defect, Premature birth, Polyhydramnios, Supernumerary nipple, Cryptorchidism,...	OMIM:615102
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy...	ORPHA:69735
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:237800
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami...	ORPHA:1667
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria	OMIM:614741
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole...	OMIM:618775
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly	OMIM:266150
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Decreased fetal movement, Polyhydramnios, Cryptorchidism	OMIM:618766
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Pontocerebellar Hypoplasia Type 4	Polyhydramnios	ORPHA:166063
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Lymphatic Malformation 1	Urethral stricture, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele tes...	OMIM:153100
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Dextrocardia, Anal atresia	ORPHA:2863
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Polyhydramnios	OMIM:618298
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Hec Syndrome	Premature birth, Polyhydramnios, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, A...	ORPHA:2119
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Peritonitis, Proteinuria, Renal amyloidosis	OMIM:134610
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Donohue Syndrome	Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia	OMIM:246200
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, He...	OMIM:613807
Intermediate Nemaline Myopathy	Cardiomyopathy, Premature birth, Decreased fetal movement, Polyhydramnios	ORPHA:171433
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79333
Syndromic Diarrhea	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Renal hypoplasia, Abnormality of the liver,...	ORPHA:84064
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Pericardial effusion, Hypersplenism, Splenomegaly, Pedal edema, Hematu...	ORPHA:77259
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect, Nephrocalcinosis, Premature birth, Polyhydramnios	OMIM:611087
Hemoglobin H Disease	Splenomegaly, Hepatomegaly	OMIM:613978
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly	OMIM:606445
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Thyroid Hemiagenesis	Abdominal distention, Constipation	ORPHA:95719
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Hematuria, Prolonged QTc interval	ORPHA:231111
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ...	ORPHA:79259
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li...	ORPHA:79327
Glycogen Storage Disease Vii	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Hem...	OMIM:232800
Lethal Congenital Contracture Syndrome 11	Decreased fetal movement, Polyhydramnios	OMIM:617194
C Syndrome	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cortical...	OMIM:211750
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
8p23.1 deletion syndrome	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Ventricular septal defect	OMIM:615297
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis	OMIM:619362
Fetal Minoxidil Syndrome	Umbilical hernia, Ventricular septal defect, Cryptorchidism	ORPHA:1918
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency, Abnormal abdomen morphology	OMIM:105120
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis	ORPHA:3327
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, H...	OMIM:300048
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ascites, Micropenis	OMIM:602361
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain	OMIM:277320
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Decreased fetal movement, Polyhydramnios, Cryptorchidism	ORPHA:319332
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect	ORPHA:254351
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Ventricular septal defect, Hypospadias, Cryptorchi...	OMIM:214100
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proxima...	OMIM:212065
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Cholestasis, Abnormality of th...	OMIM:609015
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Fanconi Anemia, Complementation Group O	Short stature, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Hydron...	OMIM:613390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Hydrops fetalis, Polyhydramnios	OMIM:255320
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Congenital Myopathy 2A, Typical, Autosomal Dominant	Decreased fetal movement, Dilated cardiomyopathy, Polyhydramnios	OMIM:161800
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad...	OMIM:613673
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Raynaud phenomenon, He...	ORPHA:93552
Acrocephalopolydactyly	Abnormal renal morphology, Protuberant abdomen	ORPHA:221054
17Q12 Microduplication Syndrome	Atrial septal defect, Polyhydramnios	ORPHA:261272
Radiculoneuropathy, Fatal Neonatal	Polyhydramnios	OMIM:266250
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E...	ORPHA:2394
Immunodeficiency 104	Splenomegaly, Hepatomegaly	OMIM:608971
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne...	OMIM:113650
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Hepatic fibrosis, Portal hypertension	OMIM:617341
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, Anasarca, Pleural e...	OMIM:618183
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca...	OMIM:230500
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
White Forelock With Malformations	Atrial septal defect	OMIM:277740
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Polyhydramnios, Increased nuchal translucency, Atrial s...	ORPHA:93274
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia	ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Miller-Dieker Syndrome	Nephropathy, Polyhydramnios	ORPHA:531
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Dilatation of the renal pelvis, Horseshoe ki...	ORPHA:314588
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Occipital encephalocele, Renal insufficiency, Recurrent respirator...	ORPHA:397715
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardiac arrest, Fetal p...	OMIM:620167
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi...	ORPHA:261265
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He...	OMIM:194380
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Parathyroid ...	ORPHA:2237
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Left Isomerism, Pulmonary artery atresia, Situs inversus...	OMIM:619702
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Abnormal salivary gland morphology, Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Vacterl/Vater Association	Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Premature birth, Hypo...	ORPHA:887
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-like lysosomal pigmentation, Jau...	OMIM:208085
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hepatitis...	ORPHA:584
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ...	ORPHA:699
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Low plasma citrulline, Renal steatosis, Elevated circulating alanine ami...	OMIM:261680
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e...	ORPHA:199241
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Elevated urine acetoacetic acid level, 3-Methylglutaconic a...	OMIM:620089
Bamforth-Lazarus Syndrome	Polyhydramnios	OMIM:241850
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Polyhydramnios, Dehydration	OMIM:616069
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic bronchitis	OMIM:615451
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Polyhydramnios	OMIM:240900
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn...	ORPHA:261290
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Premature birth, Nonimmune hydrops fetalis	OMIM:618839
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase...	OMIM:615559
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Leber Congenital Amaurosis 1	Hyperthreoninuria, Hyperthreoninemia, Hepatomegaly	OMIM:204000
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria	OMIM:245900
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Pontocerebellar Hypoplasia, Type 4	Polyhydramnios	OMIM:225753
Meckel Syndrome 14	Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:619879
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Hypertrophic cardiomyopathy, Premature birth, Nonimmune hydrops fetalis	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis	ORPHA:182050
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Polyhydramnios	OMIM:619971
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Nephro...	OMIM:616026
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Polyhydramnios, Micropenis, Hydrocele testis, Neonatal death, Hypertrophic cardiomy...	OMIM:618810
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, In...	ORPHA:90321
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Hyperuricem...	ORPHA:469
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal...	OMIM:617022
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Immunodeficiency 48	Splenomegaly, Hepatomegaly	OMIM:269840
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis	OMIM:240300
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Cryptorchidism, Polyhydramnios	OMIM:615633
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Anencephaly, Hydrops fetalis, Polycystic kidney dysplasia, Atrial septal defect, ...	OMIM:616546
Methimazole Embryofetopathy	Hypospadias, Ventricular septal defect, Polyhydramnios	ORPHA:1923
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts, Polyhydramnios	OMIM:618548
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Secundum atrial septal defect, Pneumothorax, Clef...	ORPHA:2257
Lethal Recessive Chondrodysplasia	Polyhydramnios, Edema	ORPHA:1423
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, He...	ORPHA:156
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:330001
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva...	OMIM:613070
Feingold Syndrome 1	Accessory spleen, Decreased fetal movement, Ventricular septal defect, Tricuspid stenosis, Polyhy...	OMIM:164280
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice	OMIM:613977
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Scimitar Syndrome	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnorm...	ORPHA:185
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Fetal polyuria, Global glomerulosclerosis, Premature birth, Renal insufficiency...	OMIM:602522
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Polyhydramnios, Abnorma...	ORPHA:2547
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Abnormal renal collecting system morphology, Hyperechogenic kidneys, Polyhydramnios, Echogenic fe...	OMIM:616809
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly	OMIM:618224
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Familial Reactive Perforating Collagenosis	Chronic kidney disease	ORPHA:79147
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Azoospermia, Increased ...	OMIM:602390
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Polyhydramnios, Cryptorchidism, Abnormality of th...	ORPHA:3376
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Autosomal Erythropoietic Protoporphyria	Abnormal circulating porphyrin concentration, Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Thanatophoric Dysplasia	Atrial septal defect, Increased nuchal translucency, Abnormality of the kidney, Polyhydramnios	ORPHA:2655
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Oligohydramnios	OMIM:274265
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten...	ORPHA:2241
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst	OMIM:614175
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Arthrogryposis Multiplex Congenita 6	Neonatal death, Decreased fetal movement, Hypospadias, Polyhydramnios	OMIM:619334
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly	OMIM:607685
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art...	OMIM:251290
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating...	OMIM:616860
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am...	ORPHA:213
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea	ORPHA:103910
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf...	ORPHA:51890
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Immunodeficiency, Common Variable, 13	Fetal distress, Polyhydramnios	OMIM:616873
Congenital Myopathy 14	Decreased fetal movement, Polyhydramnios	OMIM:618414
Porphyria Due To Ala Dehydratase Deficiency	Nausea, Abdominal pain, Abdominal distention, Diarrhea, Increased urinary porphobilinogen, Consti...	ORPHA:100924
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Sweeney-Cox Syndrome	Polyhydramnios, Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus, Patent foramen ovale	OMIM:617746
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ...	ORPHA:139466
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca...	ORPHA:254864
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Noonan Syndrome 5	Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Arrhythmia, Atrial septal defect, Hypertrophic...	OMIM:611553
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:263520
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Nausea and vomiting, Renal dysplasia, Urinary bladder inflammation, Abdominal...	ORPHA:79403
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Single umbilical artery, Patent...	OMIM:618027
Congenital-Onset Steinert Myotonic Dystrophy	Decreased fetal movement, Bundle branch block, Premature birth, Polyhydramnios, First degree atri...	ORPHA:589821
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Pontocerebellar Hypoplasia, Type 12	Polyhydramnios	OMIM:618266
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Freeman-Sheldon Syndrome	Cryptorchidism, Prenatal movement abnormality, Polyhydramnios, Oligohydramnios	ORPHA:2053
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Cholestasis	OMIM:609060
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Achondrogenesis, Type Ii	Stillbirth, Polyhydramnios, Hydrops fetalis, Edema	OMIM:200610
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Lymphoproliferative Syndrome 1	Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly	OMIM:613011
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Intestinal obstruction, Biliary tract neoplasm, Enlarged polycystic ov...	ORPHA:2869
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,...	ORPHA:552
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria	OMIM:604273
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Noonan Syndrome 6	Polyhydramnios, Edema, Cryptorchidism, Single umbilical artery, Pulmonic stenosis, Hypertrophic c...	OMIM:613224
Poland Syndrome	Dextrocardia	OMIM:173800
Congenital Myopathy 15	Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios	OMIM:620161
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:500009
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Axial Mesodermal Dysplasia Spectrum	Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Tr...	ORPHA:1834
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr...	OMIM:619608
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Childhood-Onset Nemaline Myopathy	Breech presentation, Cardiomyopathy, Polyhydramnios, Fetal akinesia sequence	ORPHA:171439
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Ascites, Hypocalcemia	ORPHA:100025
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Splenomegaly, Pulmonic ...	OMIM:608149
Oligomeganephronia	Branchial cyst, Renal insufficiency, Premature birth, Proteinuria, Unilateral renal agenesis, Sec...	ORPHA:2260
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati...	OMIM:619991
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Abno...	ORPHA:440713
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Polyhydramnios	ORPHA:1203
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Bamforth-Lazarus Syndrome	Polyhydramnios	ORPHA:1226
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Nephroblastoma	ORPHA:2849
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema	ORPHA:79126
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin...	ORPHA:298
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Polyhydramnios	ORPHA:521390
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase	OMIM:246900
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Polyhydramnios	OMIM:617967
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, S...	ORPHA:781
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Azoospermia, Micropenis, Dec...	ORPHA:168569
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Patent ductus arteriosus, Pituitary adenoma, Biliary a...	ORPHA:96149
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Pulmonic stenosi...	OMIM:610733
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
X-Linked Centronuclear Myopathy	Decreased fetal movement, Premature birth, Polyhydramnios, Low APGAR score	ORPHA:596
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Argininemia	Hepatomegaly, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diaminoaciduria, Portal fibros...	OMIM:207800
Lambert Syndrome	Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic bi...	ORPHA:1296
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Johanson-Blizzard Syndrome	Dextrocardia, Edema, Malabsorption, Anteriorly placed anus, Abnormal cardiac septum morphology, A...	ORPHA:2315
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Splenic c...	OMIM:618188
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Alg8-Cdg	Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios	ORPHA:79325
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly	ORPHA:86893
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Jaundice, Chronic kidney...	ORPHA:447
Diamond-Blackfan Anemia 7	Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Horseshoe kidney, Vesic...	OMIM:612562
Even-Plus Syndrome	Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux, Atrial septal defect...	OMIM:616854
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red...	OMIM:266200
Bardet-Biedl Syndrome 17	Situs inversus totalis, Dextrocardia	OMIM:615994
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Elevated ...	ORPHA:488618
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met...	OMIM:246450
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Myotonic Dystrophy 1	Decreased fetal movement, Atrial flutter, Atrial fibrillation, First degree atrioventricular bloc...	OMIM:160900
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Anal stenosis, Ectopic anus, Dextrocardia	OMIM:613686
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia	OMIM:610539
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Atrioventricular canal defect, Congenitally corrected tra...	OMIM:618300
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis	OMIM:613193
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy...	OMIM:235555
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype...	OMIM:203800
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig...	ORPHA:3426
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death...	OMIM:236500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ne...	ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia	OMIM:619053
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Premature birth, Sudden cardiac death, Cong...	ORPHA:1880
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Renal cyst	OMIM:213300
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Polyhydramnios	ORPHA:1150
Myotubular Myopathy With Abnormal Genital Development	Decreased fetal movement, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilateral crypt...	OMIM:300219
Dominant Beta-Thalassemia	Hypoparathyroidism, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Chronic hepa...	ORPHA:231226
Mednik Syndrome	Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen...	OMIM:609313
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thickened nuchal skin fold, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, ...	OMIM:235255
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Hydrops fetalis	OMIM:616738
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:615504
Marden-Walker Syndrome	Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, Hi...	OMIM:248700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Premature birth, Polyhydramnios, Splenomegaly, Reduced renal corticomedullary diffe...	OMIM:618541
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Neonatal death, Pe...	OMIM:601186
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco...	ORPHA:445038
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:615505
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, ...	OMIM:232240
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Nonimmune hydrops fetalis, Epistaxis, Lymphedema, High-output congestive hear...	ORPHA:137667
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar...	OMIM:227810
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Do...	OMIM:220210
Verheij Syndrome	Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Cleft palate, Growth delay, Intraute...	OMIM:615583
Fraser Syndrome 3	Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Nonimmu...	OMIM:617667
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Hepatic fibrosis	OMIM:613989
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice...	ORPHA:231214
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnio...	OMIM:608013
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Premature birth, Splenomegaly, Paten...	ORPHA:354
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:253220
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Polyhydramnios, Cryptorchidism, Glandular hypospadias, Micropenis, Penile hypospadias, Penoscrota...	ORPHA:456328
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Hepatoblastoma, Elevated circulating alpha-fetoprotein concen...	ORPHA:116
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Nonimmune hydrops fetalis, Jaundic...	OMIM:617049
Bardet-Biedl Syndrome 8	Situs inversus totalis	OMIM:615985
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure	ORPHA:75233
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Cardiofaciocutaneous Syndrome 4	Decreased response to growth hormone stimulation test, Polyhydramnios, Ventricular septal hypertr...	OMIM:615280
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Edema, Minimal change glomer...	OMIM:618348
Ciliary Dyskinesia, Primary, 35	Situs inversus totalis, Recurrent pneumonia, Abdominal situs ambiguus, Bronchiectasis	OMIM:617092
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrops fetalis, Abnormal heart morphology, Single umbilical arter...	ORPHA:1865
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, H...	ORPHA:2470
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat...	OMIM:618805
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Pleural effusion, Edema, Micropenis	OMIM:617822
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites	ORPHA:2198
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Abnormal sweat g...	OMIM:607823
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis, Recurrent sinusitis	OMIM:612518
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Abnormal renal corticomedullary differentiation, Left ventricular hypertrophy, Rena...	OMIM:616733
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart, Polyhydramnios	OMIM:618829
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis	ORPHA:848
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Hepatomegaly	OMIM:603902
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv...	OMIM:610198
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Intellectual Developmental Disorder, Autosomal Recessive 73	Decreased fetal movement, Ventricular septal defect	OMIM:619717
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Homoc...	OMIM:238970
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Nodular pattern o...	ORPHA:333
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia	OMIM:152800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased nuchal translucen...	OMIM:618494
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Micropenis, Patent foramen ovale	OMIM:619189
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Hypospadias, Polyhydramnio...	OMIM:301056
Seckel Syndrome 9	Decreased fetal movement, Recurrent urinary tract infections, Ventricular septal defect, Polyhydr...	OMIM:616777
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly	OMIM:618852
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal loc...	ORPHA:83473
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Increased level of gal...	ORPHA:79237
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom...	ORPHA:64739
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe...	OMIM:153400
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Bronchogenic Cyst	Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal...	ORPHA:2357
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Abnormality of the liver, Hydrops fetalis, Hepatocellular carcinoma	ORPHA:88618
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly	OMIM:615010
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morphology, Gastroesophageal reflux,...	ORPHA:261197
Hypotonia, Infantile, With Psychomotor Retardation	Decreased fetal movement, Ventricular septal defect, Cryptorchidism	OMIM:616816
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa...	ORPHA:99827
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Secretory diarrhea, Abdominal distention, Renal duplication	OMIM:270420
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormality of the kidney, Cryptorchidism, Hyperammonemia, 3-Methylglu...	ORPHA:1194
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Vesicoureteral refl...	OMIM:617219
Glycogen Storage Disease Xii	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Jaundice, Elevate...	OMIM:611881
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys...	OMIM:606232
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites, Increase...	ORPHA:2905
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Citrullinemia, Classic	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Polyhydramnios, Functional abnormali...	ORPHA:223
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen	ORPHA:226313
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis, Bronchiectasis, Recurrent sinusitis	OMIM:615481
Bardet-Biedl Syndrome 1	Decreased testicular size, Abnormality of the kidney, Biliary tract abnormality, Hepatic fibrosis...	OMIM:209900
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Ascites	ORPHA:858
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Hematuria, Pan...	ORPHA:549
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating porphyrin c...	ORPHA:79473
Cold Agglutinin Disease	Splenomegaly, Abnormal urinary color, Hepatomegaly	ORPHA:56425
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abdominal distention, Aplasia of the bladder, Vomiti...	ORPHA:158684
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis	OMIM:618265
Ovarian Fibroma	Abdominal distention, Abdominal pain	ORPHA:314473
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Platyspondylic Dysplasia, Torrance Type	Hydrops fetalis, Polyhydramnios	ORPHA:85166
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Polyhydramnios, Placental abruption, Crypt...	OMIM:603467
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro...	ORPHA:288
Multiple Pterygium Syndrome, X-Linked	Polyhydramnios, Hypoplastic heart, Edema, Fetal akinesia sequence	OMIM:312150
Dohle Bodies And Leukemia	Secundum atrial septal defect, Lymphedema	OMIM:223350
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Polyhydramnios, Situs inversus totalis	OMIM:202650
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Renal insufficiency, Testicular seminoma, Unilateral renal agenesis	ORPHA:281090
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Hepatomegaly, Glomerulonephritis	OMIM:619375
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Splenomegaly, Abnormal r...	ORPHA:1655
Combined D-2- And L-2-Hydroxyglutaric Aciduria	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, L-2-hydroxyglutaric aciduria, In...	OMIM:615182
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Lymphedema, Chylopericardium...	ORPHA:538
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubi...	OMIM:614886
Tetraamelia Syndrome 1	Renal agenesis, Asplenia, Peripheral pulmonary vessel aplasia, Urethral atresia, Single umbilical...	OMIM:273395
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct...	OMIM:620005
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegal...	ORPHA:14
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Hepatomegaly, Recurrent urinary tract infections	OMIM:618495
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Schneckenbecken Dysplasia	Umbilical hernia, Stillbirth, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:269250
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Aminoaciduria,...	OMIM:249270
Hyperuricemia, Hprt-Related	Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300323
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Edema, Splenomegaly, Anencephaly, Renal ...	OMIM:269860
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-...	ORPHA:3261
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hepatic failure	OMIM:177000
Czeizel-Losonci Syndrome	Tracheoesophageal fistula, Pulmonary hypoplasia, High palate, Dextrocardia	ORPHA:2437
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly	OMIM:610333
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Bronchiectasis	OMIM:614017
Generalized Arterial Calcification Of Infancy	Polyhydramnios, Edema, Cardiomegaly, Fetal distress, Hydrops fetalis, Nephrocalcinosis, Pericardi...	ORPHA:51608
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria, Polyhydramnios	OMIM:615330
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:614576
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa...	ORPHA:508
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi...	ORPHA:347
Qazi-Markouizos Syndrome	Chronic constipation, Abdominal distention	ORPHA:3010
Myopathy, Centronuclear, X-Linked	Low 5-minute APGAR score, Decreased fetal movement, Premature birth, Polyhydramnios, Cryptorchidi...	OMIM:310400
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra...	OMIM:612946
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm...	ORPHA:1926
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Hepatomegaly, Recurrent urinary tract infections	OMIM:620210
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Increased nuchal translucency, Unilateral cryptorchidism, Polyhydramnios	OMIM:618862
Isolated Atp Synthase Deficiency	Hepatomegaly, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia	ORPHA:254913
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Panacinar emphysema, Bronchiectasis, Gastric varix, Chronic bronchitis	OMIM:613490
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Renal Agenesis	Renal insufficiency, Proteinuria, Renal agenesis, Ventricular septal defect, Unilateral renal age...	ORPHA:411709
Mgat2-Cdg	Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Hypoplastic nipples, Refle...	ORPHA:79329
Costello Syndrome	Thickened nuchal skin fold, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Mitral val...	ORPHA:3071
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Abnormal renal corticomedullary...	OMIM:617397
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Ichthyosis Prematurity Syndrome	Caseous vernix-like desquamation, Premature birth, Polyhydramnios	OMIM:608649
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Ja...	ORPHA:79282
Multiple Pterygium Syndrome, Lethal Type	Polyhydramnios, Hypoplastic heart, Edema, Fetal akinesia sequence	OMIM:253290
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati...	OMIM:614872
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou...	OMIM:608978
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Polyhydramnios, Lymphedema	OMIM:618154
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Hennekam Syndrome	Lymphopenia, Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Ec...	ORPHA:2136
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Nephropathy, Nephroblastoma	OMIM:194072
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Edema, Pericardial effusion, Hematemesis, Splenomegaly, Vasculitis, Hepatitis, Hema...	OMIM:615846
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:615273
Klatskin Tumor	Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Vomiting, Nausea, Abdominal pain	ORPHA:90003
Cognitive Impairment With Or Without Cerebellar Ataxia	Polyhydramnios	OMIM:614306
Acute Intermittent Porphyria	Dark urine, Nausea and vomiting, Renal insufficiency, Dysuria, Urinary incontinence, Abdominal pa...	ORPHA:79276
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Polyhydramnios	OMIM:615503
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux	ORPHA:228399
Bartter Syndrome, Type 5, Antenatal, Transient	Fetal polyuria, Premature birth, Polyuria, Polyhydramnios, Hypercalciuria, Medullary nephrocalcin...	OMIM:300971
Thanatophoric Dysplasia Type 1	Atrial septal defect, Increased nuchal translucency, Abnormality of the kidney, Polyhydramnios	ORPHA:1860
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypopla...	ORPHA:83617
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid...	ORPHA:411543
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excretion, Aspirat...	ORPHA:79255
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Polyhydramnios, Hypercalciuria, Nephrocalcinosis, Intracranial hemo...	OMIM:241500
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis	OMIM:166210
Renpenning Syndrome	Heterotaxy, Cleft palate, High, narrow palate, Anal atresia	ORPHA:3242
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Severe Congenital Nemaline Myopathy	Decreased fetal movement, Premature birth, Hypospadias, Polyhydramnios, Edema of the dorsum of ha...	ORPHA:171430
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Thanatophoric Dysplasia, Type Ii	Neonatal death, Decreased fetal movement, Polyhydramnios	OMIM:187601
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Fibrochondrogenesis 1	Stillbirth, Patent foramen ovale, Hydrops fetalis	OMIM:228520
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis, Bronchiectasis, Pneumonia, Recurrent sinusitis	OMIM:612444
Lethal Congenital Contracture Syndrome 5	Decreased fetal movement, Subdural hemorrhage, Retinal hemorrhage, Polyhydramnios	OMIM:615368
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis	OMIM:235700
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase	OMIM:615438
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Hypospadias	OMIM:618330
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Nephropathy	ORPHA:575
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus, Recurrent sinusitis, Chronic bronchitis	OMIM:614874
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increased nuchal tran...	OMIM:605275
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hepatitis, Tubulointer...	ORPHA:139402
Pancreatic Colipase Deficiency	Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency	ORPHA:309108
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia, Elevated circulating creatine kinase concentration	ORPHA:565899
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Abnormal heart morphology, Atrial sept...	ORPHA:401935
Lethal Kniest-Like Dysplasia	Atrial septal defect, Breech presentation, Polyhydramnios, Edema	ORPHA:2347
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve...	ORPHA:261222
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent...	ORPHA:263455
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Gastroesophageal reflux	OMIM:619881
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Systemic Capillary Leak Syndrome	Pancreatitis, Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:615500
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Fetal pyelectasis	OMIM:301058
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Nemaline Myopathy 2	Decreased fetal movement, Polyhydramnios	OMIM:256030
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Consti...	ORPHA:95427
Emanuel Syndrome	Thickened nuchal skin fold, Decreased fetal movement, Recurrent urinary tract infections, Truncus...	OMIM:609029
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Proximal tubulopathy, Polyuria	OMIM:560000
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Vesicoureteral reflux, Mitral regurgitation, ...	OMIM:615879
Greenberg Dysplasia	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I...	OMIM:215140
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt...	OMIM:617575
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Mogs-Cdg	Hepatomegaly, Generalized edema, Polyhydramnios, Cardiomegaly, Edema, Hepatosplenomegaly, Hydroce...	ORPHA:79330
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252920
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Single umbilical artery, Hypoplas...	ORPHA:2772
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Elevated circulating creatine kinase concentration	OMIM:615704
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased nuchal translucency, S...	OMIM:617635
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Polyhydramnios, Breech p...	OMIM:300868
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Hypotension, Atrial septal defect, Pate...	OMIM:615668
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly	ORPHA:66661
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L...	OMIM:124000
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly...	ORPHA:79101
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Ectopic kidney	ORPHA:268249
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers...	ORPHA:991
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Short stature, Aganglionic megacolon, Renal hyp...	ORPHA:2473
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:212138
Lead Poisoning	Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease, Renal tubular dysfunction...	ORPHA:330015
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Decreased circulating free fatty acid level, Diffuse pancreatic islet hyperplasia, ...	ORPHA:276575
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ...	OMIM:217095
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Cardiac Diverticulum	Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ...	ORPHA:1686
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia	OMIM:182900
Pfapa Syndrome	Splenomegaly, Hepatomegaly	ORPHA:42642
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Polyhydramnios	ORPHA:2774
Intellectual Disability-Strabismus Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Polyhydramnios, Cryptorchidis...	ORPHA:363528
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu...	OMIM:618901
Anemia, Congenital Dyserythropoietic, Type Ib	Splenomegaly, Hepatomegaly, Jaundice	OMIM:615631
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short stature, Cryptorchidism, Abnormal vena cava morphology, Horseshoe kidney, Renal cyst, Intra...	ORPHA:166035
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Galactosialidosis	Conjunctival telangiectasia, Nonimmune hydrops fetalis, Hepatosplenomegaly	OMIM:256540
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ...	ORPHA:97214
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Fetal polyuria, Renal insufficiency, Premature birth, Polyuria, Polyhydramnios,...	OMIM:613090
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Muckle-Wells Syndrome	Renal insufficiency, Renal amyloidosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Decreased fetal movement, Spina bifida occulta, Subdural hemorrhage, Polyhydramnios	OMIM:618291
Hyperinsulinism Due To Ucp2 Deficiency	Decreased circulating free fatty acid level, Diffuse pancreatic islet hyperplasia, Hepatomegaly, ...	ORPHA:276556
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention	ORPHA:1876
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect, Polyhydramnios, Hematochezia, Hypoplasia of the thymus, Congenital pul...	OMIM:243150
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Splenomegaly, Hepatomegaly, Jaundice, Exocrine pancreatic insufficiency	OMIM:612714
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly	ORPHA:79292
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency	ORPHA:83313
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Thanatophoric Dysplasia, Type I	Champagne cork sign, 1-minute APGAR score of 1, Decreased fetal movement, Polyhydramnios, Breech ...	OMIM:187600
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re...	OMIM:608647
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Achondrogenesis, Type Ia	Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu...	OMIM:200600
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentra...	OMIM:608104
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Ch...	OMIM:614935
Allan-Herndon-Dudley Syndrome	Decreased fetal movement, Premature birth, Polyhydramnios, Cryptorchidism, Prolonged neonatal jau...	ORPHA:59
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice...	OMIM:229600
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis	OMIM:613870
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Polyhydramnios, Edema, Cryptorchidism, Micropenis, Patent foramen ovale	OMIM:607143
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine	ORPHA:51208
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Double outlet...	OMIM:179613
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:136680
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Renal hy...	ORPHA:567
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, High palate, Dextrocardia	OMIM:618929
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, Hydronephrosis, Micropenis, Decreased testicular size	OMIM:619185
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Alagille Syndrome 1	Elevated hepatic transaminase, Duplicated collecting system, Hepatocellular carcinoma, Multiple s...	OMIM:118450
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Reduced pancreatic beta cells	OMIM:226980
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Abnormal renal morphology, Sing...	ORPHA:329224
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Hypoplasia of penis, Polyhydramnios	ORPHA:990
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Nephrocalcinosis, Polyhydramnios	OMIM:618005
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Hypospadias, Ventricular septal defect, Premature birth, Polyhydramnios, Bilateral cryptorchidism...	OMIM:300998
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Abruzzo-Erickson Syndrome	Hypospadias, Coronal hypospadias, Cryptorchidism, Abnormal localization of kidney, Atrial septal ...	ORPHA:921
Heart And Brain Malformation Syndrome	Ventricular septal defect, Polyhydramnios	OMIM:616920
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis	OMIM:616481
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Polyhydramnios	OMIM:617360
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism	OMIM:618107
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, Jaundice, Micr...	OMIM:300855
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Hypospadias, Polyhydramnios, Unilateral renal ag...	ORPHA:464311
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hepatic ste...	ORPHA:2348
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Cholestasis	ORPHA:293173
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Decreased fetal movement, Polyhydramnios	OMIM:618186
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Umbilical hernia, Abnormality of the ureter	ORPHA:1035
Pleural Mesothelioma	Hepatomegaly	ORPHA:50251
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi...	ORPHA:324525
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Polyhydramnios, Right ventricular hypertrophy	OMIM:612949
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension	OMIM:300887
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers...	OMIM:617595
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
Megalencephaly	Atrial septal defect, Long penis, Macroorchidism	ORPHA:2477
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Enlarged l...	ORPHA:449432
Fryns Syndrome	Thickened nuchal skin fold, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchi...	ORPHA:2059
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Lethal Congenital Contracture Syndrome Type 1	Amniotic constriction ring, Polyhydramnios	ORPHA:1486
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency	OMIM:247410
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Mitral valve prolapse, Pulmonic stenos...	OMIM:609942
Bohring-Opitz Syndrome	Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Vesicoureteral reflux, Hyperecho...	OMIM:605039
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Hypergl...	OMIM:606054
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Umbilical hernia, Cryptorchidism, Abnormal heart morphology	ORPHA:352490
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas...	ORPHA:230
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:435651
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Patent foramen ovale, Horseshoe kidney	ORPHA:221120
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Castleman Disease	Renal insufficiency, Abdominal mass, Elevated circulating C-reactive protein concentration, Jaund...	ORPHA:160
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida	ORPHA:2476
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, In...	ORPHA:73246
Proteus Syndrome	Splenomegaly, Venous malformation	OMIM:176920
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis	OMIM:612650
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly	OMIM:252900
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn...	OMIM:200980
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Hajdu-Cheney Syndrome	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Polycystic kidney dysplasia	OMIM:102500
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypercalciuria, Mucopo...	OMIM:618440
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias...	ORPHA:369929
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,...	ORPHA:542323
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Hepatomegaly	OMIM:601979
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly	OMIM:615085
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Crypto...	ORPHA:2166
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Short stature, Hypospadias, Supernumerary nipple, Crypt...	ORPHA:261494
Microlissencephaly-Micromelia Syndrome	Hypoparathyroidism, Fetal pyelectasis, Palpebral edema, Polyhydramnios	ORPHA:50810
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Polyhydramnios, Bladder trabeculation...	OMIM:614080
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Methylmalonic aciduria, Hyperammonemia, Hypergly...	OMIM:251110
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Dextrocardia, Tracheoesophageal fistula, High palate, Atrial septal defect, Glossitis	OMIM:277380
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Hepatic failur...	ORPHA:912
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ...	ORPHA:363444
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Decreased fetal movement, Premature birth, Secundum atrial septal defect, Congestive heart failur...	OMIM:616866
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Familial Visceral Myopathy	Vesicoureteral reflux, Abdominal distention, Hydroureter, Megacystis	ORPHA:2604
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Thyroid Hypoplasia	Abdominal distention, Constipation	ORPHA:95720
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Autosomal Dominant Centronuclear Myopathy	Decreased fetal movement, Urinary incontinence, Polyhydramnios, Cryptorchidism	ORPHA:169189
Scrub Typhus	Splenomegaly, Renal insufficiency	ORPHA:83317
Ovarian Fibrothecoma	Abdominal distention, Abdominal pain	ORPHA:314478
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Truncus arteriosus, Intestinal malrotation, Renal age...	ORPHA:2538
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly	OMIM:231000
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Cirrhosi...	ORPHA:79086
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene...	OMIM:617666
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pyloric stenosis, Submucous clef...	ORPHA:2461
Cat Eye Syndrome	Anal stenosis, Short stature, Intestinal malrotation, Renal agenesis, Rectal fistula, Patent duct...	OMIM:115470
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia	OMIM:610678
Adams-Oliver Syndrome	Congenital hepatic fibrosis, Ascites, Cirrhosis, Portal hypertension	ORPHA:974
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal dysplasia	ORPHA:85321
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ...	OMIM:619167
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93476
Aortic Valve Disease 3	Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve	OMIM:618496
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Absent gallbladder, Ventricular septal defect...	OMIM:600001
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Ch...	OMIM:613808
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Bundle branch block, Polyhydramnios, Hepatoblastoma, A...	ORPHA:373
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the ureter	ORPHA:1133
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia	ORPHA:927
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol	OMIM:229700
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Trichohepatoenteric Syndrome 2	Hepatomegaly, Cirrhosis, Decreased serum iron, Chronic hepatitis	OMIM:614602
Congenital Myopathy 12	Decreased fetal movement, Premature birth, Polyhydramnios, Fetal akinesia sequence	OMIM:612540
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ...	OMIM:146510
Phosphoribosylaminoimidazole Carboxylase Deficiency	Neonatal death, Coronal hypospadias, Bilateral cryptorchidism, Polyhydramnios	OMIM:619859
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Dextrocardia, Cleft palate	ORPHA:220493
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ...	OMIM:612561
Hydrolethalus	Anencephaly, Cryptorchidism, Premature birth, Polyhydramnios	ORPHA:2189
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Peri...	OMIM:249100
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm...	ORPHA:3027
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Generalized edema, Hydroureter, Fetal megacystis, Oligohydramnios	OMIM:249210
Atelosteogenesis Type I	Rhizomelia, Malrotation of colon, Cleft palate, Neonatal short-trunk short stature, Multiple rena...	ORPHA:1190
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Peripheral arteriovenous fistula, Transient ischemic attack, Portal hyperte...	ORPHA:774
Schnitzler Syndrome	Splenomegaly, Hepatomegaly	ORPHA:37748
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Patent ductus arteriosus, Jaundice	ORPHA:290
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Premature birth, Polyhydramnios	ORPHA:2759
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Polyhydramnios	ORPHA:1790
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary ad...	ORPHA:97289
Fumarase Deficiency	Bilateral fetal pyelectasis, Increased urine succinate level, Polyhydramnios, Intrahepatic choles...	OMIM:606812
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H...	ORPHA:79083
Congenital Myopathy 22A, Classic	Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Breech presentation, Bradycard...	OMIM:620351
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Stage 5 chronic kidney dise...	ORPHA:1830
Sepsis In Premature Infants	Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Oliguria, Enterocolitis, Functional...	ORPHA:90051
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Congenital Multicore Myopathy With External Ophthalmoplegia	Decreased fetal movement, Polyhydramnios, Edema, Cryptorchidism, Micropenis	ORPHA:98905
Currarino Syndrome	Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Gastrointestinal ob...	OMIM:176450
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis...	OMIM:620366
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Colonic Atresia	Abdominal distention	ORPHA:1198
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent...	ORPHA:79095
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Abnormal l...	ORPHA:141127
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Floating-Harbor Syndrome	Celiac disease, Tetralogy of Fallot, Gastroesophageal reflux, Atrial septal defect, Mesocardia	ORPHA:2044
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Braddock-Carey Syndrome 1	Growth delay, Multicystic kidney dysplasia, Anteriorly placed anus, Cleft palate	OMIM:619980
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Congenital pul...	OMIM:611812
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly	OMIM:240500
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Emanuel Syndrome	Decreased fetal movement, Truncus arteriosus, Ventricular septal defect, Premature birth, Unilate...	ORPHA:96170
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Microscopic Polyangiitis	Glomerulopathy, Renal insufficiency, Peritonitis, Oliguria, Hematuria, Pancreatitis	ORPHA:727
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Polyhydr...	OMIM:229850
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Xerostomia, Hepati...	ORPHA:227982
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Celiac disease	OMIM:136140
Alagille Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Cholestasis, N...	ORPHA:52
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, High palate, Intrauterine growth retar...	ORPHA:2115
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hepatomegaly	OMIM:614470
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Xerostomia, Hepatitis, Biliary cirrhosis, Anterio...	ORPHA:227990
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Cryptorchidism, Elevated circu...	OMIM:615381
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis...	ORPHA:49
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Supraventricular arrhythmia, Elevated circulating growth hormone concen...	ORPHA:91347
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Atrial septal ...	OMIM:618870
Noonan Syndrome 14	Aortic regurgitation, Polyhydramnios, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, H...	OMIM:619745
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Feeding difficulties	OMIM:620275
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Perlman Syndrome	Nephrogenic rest, Renal hamartoma, Polyhydramnios, Edema, Cryptorchidism, Nephroblastomatosis, Pa...	OMIM:267000
3C Syndrome	Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Si...	ORPHA:7
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalan...	ORPHA:348
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency...	ORPHA:1052
Refsum Disease	Splenomegaly, Renal insufficiency	ORPHA:773
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy...	OMIM:251100
Chédiak-Higashi Syndrome	Epistaxis, Edema, Pericardial effusion, Splenomegaly, Jaundice, Hepatosplenomegaly, Pleural effusion	ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Methylmalonic aciduria, Atrial septal defect, Pulmonary arterial hypertension, Ho...	OMIM:614857
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Polyhydramnios, Fetal akinesia sequence	OMIM:301041
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Increased urine alpha-ketoglutarate concentration, Ventricular septal...	OMIM:220500
Analbuminemia	Hypotension, Edema, Oligohydramnios	OMIM:616000
Diets-Jongmans Syndrome	Hypospadias, Ventricular septal defect, Polyhydramnios, Breech presentation, Cryptorchidism, Umbi...	OMIM:618846
Chitayat Syndrome	Polyhydramnios	OMIM:617180
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Adrenocorticotropic hormone excess	OMIM:609981
Omenn Syndrome	Splenomegaly, Nephrotic syndrome, Hepatomegaly	ORPHA:39041
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia	OMIM:314300
Familial Tumoral Calcinosis	Nephrocalcinosis, Hepatomegaly, Splenomegaly	ORPHA:53715
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Congenital Myopathy 22B, Severe Fetal	Decreased fetal movement, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Breech present...	OMIM:620369
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Hypoalbuminemia, Ascites	OMIM:610965
Congenital Tufting Enteropathy	Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting	ORPHA:92050
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Haddad Syndrome	Decreased fetal movement, Polyhydramnios, Oligohydramnios	ORPHA:99803
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Premature birth, Polyhydramnios	OMIM:225790
3-Methylglutaconic Aciduria, Type Viib	Decreased fetal movement, Polyhydramnios, Congestive heart failure, Dehydration, 3-Methylglutacon...	OMIM:616271
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Umbilical hernia, Cryptorchidism, Mitral valve prolapse	ORPHA:536532
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota...	ORPHA:99125
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Hypoalbuminemia, Splenomegaly	ORPHA:507
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Cryptorchidism, Increased n...	ORPHA:3472
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Hypoplasia of the thymus	OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly	ORPHA:99931
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Hepatomegaly	OMIM:231670
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration	ORPHA:85414
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Kaposi Sarcoma	Venous insufficiency, Abnormality of the spleen, Abnormality of the liver	ORPHA:33276
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting	ORPHA:71
20P12.3 Microdeletion Syndrome	Atrial septal defect, Wolff-Parkinson-White syndrome	ORPHA:261295
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul...	OMIM:614527
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Cr...	OMIM:607721
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Tarp Syndrome	Subdural hemorrhage, Horseshoe kidney, Premature rupture of membranes, Neonatal death, Atrial sep...	OMIM:311900
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti...	ORPHA:435660
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia, Spinal dysraphism, Hypoplastic left heart, Aortic valve ...	OMIM:617660
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Cardiomegaly, In...	ORPHA:465508
Niemann-Pick Disease, Type A	Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen	OMIM:257200
Necrotizing Enterocolitis	Abdominal distention, Diarrhea, Vomiting, Bloody diarrhea	ORPHA:391673
Isolated Cleft Lip	Situs inversus totalis, Umbilical hernia, Polyhydramnios	ORPHA:199302
Bachmann-Bupp Syndrome	Decreased fetal movement, Polyhydramnios, Cryptorchidism	OMIM:619075
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Abnormality of the anterior pituitary, Renal hypoplasia, Posterior pit...	ORPHA:75389
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Short stature, Hypospadias, Nephroblastoma, Postnatal growth retard...	OMIM:257300
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Breech presentation, Micropenis, Polyhydramnios, Cryptorchidism	OMIM:619847
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Bronchiectasis	OMIM:615434
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Cryptorchidism, Micropenis, Polyhydramnios	OMIM:619761
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Proteinuria, Splenomegaly, Microscopic hematuria	ORPHA:77297
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con...	ORPHA:36234
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Ventricular septal defect, Hypospadias, Parachute mitral valve, Cryptorchidism, ...	OMIM:618316
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea...	OMIM:251900
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ...	OMIM:175200
Juvenile Sialidosis Type 2	Hepatomegaly, Abnormality of the kidney, Visceromegaly, Hepatosplenomegaly	ORPHA:93399
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abnormal gastric mucosa morphology, Hematochezia, Gas...	ORPHA:263665
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:185000
Arthrogryposis, Distal, Type 2A	Decreased fetal movement, Polyhydramnios, Breech presentation, Cryptorchidism, Spina bifida occul...	OMIM:193700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Indolent Systemic Mastocytosis	Splenomegaly, Hepatomegaly	ORPHA:98848
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Pericardial effusion, Cryptorchidism, Breast hypoplasia	ORPHA:1272
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly	ORPHA:50812
Sea-Blue Histiocytosis	Splenomegaly, Hepatomegaly	ORPHA:158029
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Lessel-Kreienkamp Syndrome	Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis	OMIM:619149
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Johanson-Blizzard Syndrome	Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Increas...	OMIM:243800
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Fetal Akinesia Deformation Sequence	Cryptorchidism, Polyhydramnios, Fetal akinesia sequence	ORPHA:994
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	4-hydroxyphenylacetic aciduria, Polyhydramnios, Congestive heart failure, Microvesicular hepatic ...	OMIM:617156
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Abdominal distention, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hypere...	OMIM:619351
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Hepatitis, Intestinal atresia, Hypoplasia of the thymus, Rectal abscess, ...	ORPHA:436252
Dehydrated Hereditary Stomatocytosis 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia	OMIM:616689
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Cleft palate, Coronary artery fistula, Abnormal cardiac ...	OMIM:614294
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Hypercholesterolemia, Hepatic ...	ORPHA:528
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, Mitral...	OMIM:616564
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Prolonged neonatal jaundice, Polycystic kidney dysp...	OMIM:210710
Hereditary Spherocytosis	Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis	ORPHA:822
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera...	ORPHA:96179
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, ...	ORPHA:1120
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Stage 5 ...	OMIM:222700
Joubert Syndrome 14	Growth delay, Renal cyst, Intracranial hemorrhage, Cleft palate	OMIM:614424
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Abnormal renal ...	OMIM:609053
Waldenström Macroglobulinemia	Splenomegaly, Hepatomegaly, Renal insufficiency	ORPHA:33226
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Short stature, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, R...	OMIM:617260
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Thromb...	OMIM:617053
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Umbilical hernia, ...	OMIM:616028
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Hypertension, Atrial septal defe...	OMIM:139210
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly	OMIM:620296
Rauch-Steindl Syndrome	Hepatomegaly, Hyperechogenic kidneys, Bilateral renal hypoplasia, Exocrine pancreatic insufficiency	OMIM:619695
Suleiman-El-Hattab Syndrome	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Patent foramen ovale, Hydronephr...	OMIM:618950
Neu-Laxova Syndrome 1	Decreased fetal movement, Ventricular septal defect, Renal agenesis, Polyhydramnios, Fetal akines...	OMIM:256520
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Ascites, Abnormal circulating lipid concentration	ORPHA:381
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Tetralogy of Fallot, Dextrocardia, Abnormal heart morphology	ORPHA:96092
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis	OMIM:618504
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly	OMIM:252930
Neu-Laxova Syndrome 2	Decreased fetal movement, Polyhydramnios, Spina bifida, Edema	OMIM:616038
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Abnormal heart mor...	ORPHA:500159
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Decreased fetal movement, Absence of renal corticomedullary differentiation, Secundum atrial sept...	OMIM:619758
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Decreased testicular size, Multicystic kidney dysplasia, Polyhydramnios, Su...	ORPHA:261349
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios	OMIM:267430
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cholestatic liver disease	ORPHA:5
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Biliary tract abnormality, Cholangitis	OMIM:209920
Yellow Fever	Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Polyhydramnios	OMIM:226730
Alg12-Cdg	Premature birth, Hypospadias, Polyhydramnios, Edema, Cryptorchidism, Muscular ventricular septal ...	ORPHA:79324
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly	OMIM:228000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro...	ORPHA:261552
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio...	ORPHA:57777
Lymphoproliferative Syndrome 2	Splenomegaly, Hepatomegaly, Ascites, Hepatosplenomegaly	OMIM:615122
Shigellosis	Hyponatremia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Abnormal blood ion concentratio...	ORPHA:810
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Hypocholesterolemia	OMIM:266510
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphyrin concentration,...	OMIM:263700
20Q13.33 Microdeletion Syndrome	Hypospadias, Abnormal cardiac ventricle morphology, Hematochezia, Atrial septal defect, Oligohydr...	ORPHA:261311
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Fetal polyuria, Hyperparathyroidism, Premature birth, Polyuria, Polyhydramnios,...	OMIM:601678
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Polyhydramnios	ORPHA:3301
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro...	ORPHA:261537
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly	ORPHA:391
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:612840
Renal Hypodysplasia/Aplasia 1	Proteinuria, Anhydramnios, Hypertension, Bilateral renal agenesis, Renal dysplasia, Oligohydramnios	OMIM:191830
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Immunodeficiency, Common Variable, 1	Splenomegaly, Hepatomegaly	OMIM:607594
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Umbilical hernia, Echogenic intrac...	OMIM:617751
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis	OMIM:217085
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly	ORPHA:422
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig...	OMIM:614261
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Right bundle ...	OMIM:617506
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism	ORPHA:280062
Sialuria	Splenomegaly, Hepatomegaly, Hypoplastic nipples, Increased level of N-acetylneuraminic acid in urine	OMIM:269921
Biotinidase Deficiency	Splenomegaly, Hepatomegaly, Organic aciduria, Hyperammonemia	OMIM:253260
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten...	ORPHA:2847
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Abnormality of...	ORPHA:1764
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Premature birth, Splenomegaly	OMIM:616651
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Cryptorchidism, Single umbilical artery, Abnormal cardiac septum morpholog...	OMIM:615009
Potocki-Lupski Syndrome	Atrial septal defect, Abnormal renal morphology, Patent foramen ovale	OMIM:610883
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Enlarged lacrimal glands, Hypercalciuria, Abnor...	OMIM:181000
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Urinary incontinence	ORPHA:309256
Distal Renal Tubular Acidosis	Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal...	ORPHA:18
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Spleno...	OMIM:312870
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Hypospadias, Cryptorchidism, Hydrops fetalis, Hypoplastic nipples, Umbi...	OMIM:265000
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Spastic Tetraplegia And Axial Hypotonia, Progressive	Polyhydramnios	OMIM:618598
Immunodeficiency 32B	Splenomegaly, Hepatomegaly, Hypoalbuminemia	OMIM:226990
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio...	ORPHA:829
Snijders Blok-Campeau Syndrome	Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Cardiofaciocutaneous Syndrome 1	Premature birth, Polyhydramnios, Splenomegaly, Pulmonic stenosis, Atrial septal defect, Hypertrop...	OMIM:115150
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Supernumerary nipple, Pyloric stenosis, Abnormal aor...	ORPHA:1001
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Oli...	OMIM:100100
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro...	ORPHA:2152
Hurler-Scheie Syndrome	Heparan sulfate excretion in urine, Hepatomegaly, Dermatan sulfate excretion in urine, Splenomegaly	OMIM:607015
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Hepatomegaly, Polyhydramnios	ORPHA:329178
Unilateral Ocular Duplication	Encephalocele, Polyhydramnios	ORPHA:3374
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia	ORPHA:2345
Trichohepatoneurodevelopmental Syndrome	Decreased fetal movement, Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnio...	OMIM:618268
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia	ORPHA:57
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Codas Syndrome	Ventricular septal defect, Polyhydramnios, Cryptorchidism, Atrial septal defect, Atrioventricular...	OMIM:600373
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Atrial septal defect, Sp...	OMIM:300373
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Decreased fetal movement, Ureteral duplication, Premature ...	OMIM:275210
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of the liver,...	ORPHA:398124
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, ...	ORPHA:423
Amish Lethal Microcephaly	Hepatomegaly, Organic aciduria	ORPHA:99742
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Paten...	OMIM:227646
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia	ORPHA:2516
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly...	ORPHA:329971
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation	OMIM:612918
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic...	ORPHA:99413
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic...	ORPHA:99226
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Nephrotic syndrome, Nephritis, Hepatomegaly	OMIM:603909
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic...	ORPHA:881
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice	OMIM:613839
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention	OMIM:619423
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatomegaly	OMIM:611490
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Edema, Renal cyst, Dehydration, Aplasia/Hypoplasia of the bladder, Ureterocel...	ORPHA:79404
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Short stature, Renal agenesis, High palate, Intrauterine growth ret...	ORPHA:1297
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Polyhydramnios, Complete atrioventricul...	OMIM:236680
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis...	ORPHA:157798
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Atrial septal defect, Pulmonary ...	ORPHA:2519
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ...	ORPHA:3202
Trisomy 8P	Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelectasis, Recurrent upper respirat...	ORPHA:264450
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Decreased fetal movement, Thymus hyperplasia, Chylothorax, Polyhydramnios	OMIM:619036
Immunodeficiency 7	Splenomegaly, Hepatomegaly	OMIM:615387
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovarie...	ORPHA:1770
Gallbladder Neuroendocrine Tumor	Abdominal distention, Nausea, Anorexia, Episodic abdominal pain	ORPHA:100086
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Polyhydramnios	OMIM:619833
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea...	OMIM:167800
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Cryptorchidism	OMIM:615502
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Large placenta, Umbilical hernia, Hydronephrosis, Polyhydramnios	ORPHA:254528
Noonan Syndrome 13	Duplicated collecting system, Lymphedema, Cryptorchidism, Mitral valve prolapse, Mitral regurgita...	OMIM:619087
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho...	ORPHA:646
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Short stature, Patent ductus arteriosus after premature birth, Renal hypopl...	OMIM:618460
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Hypoplastic Left Heart Syndrome	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Mitral atresia	ORPHA:2248
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Hypospadias, Renal ...	ORPHA:124
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function, Ureterocele	OMIM:614863
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:607625
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Polyhydramnios	ORPHA:500144
White Forelock With Malformations	Atrial septal defect, Spina bifida occulta	ORPHA:2475
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Acute kidney injury	ORPHA:449285
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Azoospermia, Hepatic fibrosis, Chole...	ORPHA:2072
Miller-Dieker Lissencephaly Syndrome	Decreased fetal movement, Polyhydramnios, Cryptorchidism, Abnormal heart morphology, Pelvic kidney	OMIM:247200
Pontocerebellar Hypoplasia, Type 2A	Polyhydramnios	OMIM:277470
Cerebrocostomandibular Syndrome	Ventricular septal defect, Polyhydramnios, Ectopic kidney, Renal cyst, Horseshoe kidney, Atrial s...	OMIM:117650
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Increased nuchal translucency, Fetal distress	OMIM:620183
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Meningocele, Hydrops fetalis	ORPHA:2879
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect, Frontal encephalocele	ORPHA:521308
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97261
King-Denborough Syndrome	Decreased fetal movement, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Br...	OMIM:619542
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
16P12.1P12.3 Triplication Syndrome	Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn...	ORPHA:485405
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Abdominal distention, Anorexia, Episodic abdominal pain	ORPHA:370348
Thoracoabdominal Syndrome	Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries, Cleft palate	OMIM:313850
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Bicuspid aortic valve, Polyhydramnios, Lymphedema, Cryptorchidism, Splenomegaly, Hepatosplenomega...	OMIM:613563
Bartter Syndrome Type 4	Premature birth, Polyhydramnios, Renal salt wasting, Increased urinary potassium, Impaired renal ...	ORPHA:89938
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis	OMIM:617159
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Aortopulmonary window, P...	OMIM:620025
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy...	OMIM:134780
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short stature, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, ...	OMIM:618454
Knobloch Syndrome	Pyloric stenosis, Dextrocardia	ORPHA:1571
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Cryptorchidism, Mitral regurgitation, Ventricular septal defect	OMIM:301039
Down Syndrome	Thickened nuchal skin fold, Prenatal double bubble sign, Ventricular septal defect, Complete atri...	OMIM:190685
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:585
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Ventricular septal defect	OMIM:602501
Degcags Syndrome	Polyhydramnios, Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ovale, Hepatomeg...	OMIM:619488
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Patent foramen ovale	OMIM:618832
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale	ORPHA:88630
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Cryptorchi...	ORPHA:263487
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ...	ORPHA:453499
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:308552
Radio-Renal Syndrome	Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Renal hypoplasia/aplasia, Hig...	ORPHA:3015
Blomstrand Lethal Chondrodysplasia	Premature birth, Hydrops fetalis, Polyhydramnios	ORPHA:50945
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Hyperuricemia, U...	OMIM:300661
Noonan Syndrome 9	Cryptorchidism, Hydroureter, Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Nephrocalcinosis, Exocrine panc...	OMIM:260400
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Hydrocele testis, Penile freckling	OMIM:605309
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protein conce...	ORPHA:319213
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ...	OMIM:608779
Pontocerebellar Hypoplasia, Type 2B	Polyhydramnios	OMIM:612389
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Left ventricular hyp...	OMIM:611209
Houge-Janssens Syndrome 3	Atrial septal defect, Umbilical hernia, Muscular ventricular septal defect	OMIM:618354
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Heart block, Complete atrioventricula...	OMIM:617063
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Immunodeficiency 92	Sclerosing cholangitis, Hepatomegaly, Cholangitis	OMIM:619652
Cranioectodermal Dysplasia 3	Cirrhosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Renal insufficiency, Mild proteinuria	OMIM:619147
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Ectopic thyroid, A...	ORPHA:3047
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Hypospadias, Cryptorchidism, Mitral regurgitatio...	ORPHA:254346
Pancreatic Agenesis 1	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia, Oligohydramnios	OMIM:260370
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Patent ductus arteriosus, Abnormal lung lobation, Hypercalciuria, Renal cyst,...	ORPHA:369837
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Cryptorchidism, Hypoplasia of penis, Supernumerary nipple, Polyhydramnios	ORPHA:1812
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Focal...	OMIM:242900
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Polyhydramnios, Renal hypoplasia/aplasia, Cryptorchidism, Single um...	ORPHA:3412
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:36426
Dyrk1A-Related Intellectual Disability Syndrome	Short stature, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis, Cryptorchid...	ORPHA:464306
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Cholelithiasis, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Cornelia De Lange Syndrome 1	Short stature, Hypospadias, Proteinuria, Hiatus hernia, Malrotation of colon, Pyloric stenosis, H...	OMIM:122470
Celiac Disease, Susceptibility To, 1	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	OMIM:212750
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Patent foramen ovale	OMIM:618821
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul...	OMIM:603553
Letterer-Siwe Disease	Abdominal distention	OMIM:246400
Geleophysic Dysplasia 3	Hepatomegaly, Mitral regurgitation, Premature birth, Polyhydramnios	OMIM:617809
Woods Syndrome	Ventricular septal defect, Supernumerary nipple	OMIM:615236
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Polyhydramnios	OMIM:151210
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:1842
Al-Gazali Syndrome	Hydronephrosis, Polyhydramnios	OMIM:609465
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal medullary pyramid morphology	ORPHA:79243
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Umbilical hernia, Ventricular septal defect	OMIM:619769
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter...	ORPHA:90324
Leopard Syndrome 1	Bundle branch block, Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defe...	OMIM:151100
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Long penis, Biliary trac...	OMIM:268300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Hepatosplenomegaly, U...	ORPHA:79124
Dengue Fever	Hepatomegaly, Ascites, Hypoproteinemia	ORPHA:99828
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Premature birth, Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythm...	OMIM:614052
Diarrhea 1, Secretory Chloride, Congenital	Premature birth, Polyhydramnios, Dehydration	OMIM:214700
Polymyositis	Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal renal tubule morphology	ORPHA:732
Distal Xq28 Microduplication Syndrome	Patent foramen ovale, Predominantly lower limb lymphedema, Epistaxis, Upper eyelid edema	ORPHA:293939
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accum...	ORPHA:20
Reynolds Syndrome	Hepatomegaly, Jaundice, Ascites, Cirrhosis	ORPHA:779
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect	ORPHA:93946
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Adenoma se...	OMIM:191100
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Absent nipple, Aplasia of the thymus, Polyhydramnios, Echogenic fetal bowel, Hydr...	OMIM:620186
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cryptorchidism, Heart murmur, Multiple bladder diverticula, Atrial septal defect	ORPHA:2728
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Clef...	OMIM:616300
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru...	OMIM:233450
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Urinary incontinence	ORPHA:309263
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Polyhydramnios, Hypercalciuria, Nephrocalcinosis, Patent foramen ovale, Renal dysplasia	OMIM:300990
Complement Factor I Deficiency	Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis	OMIM:610984
Typical Nemaline Myopathy	Polyhydramnios	ORPHA:171436
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Cryptorchidism, Spina bifida occulta, Transposition of th...	OMIM:201000
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Proteinuria	ORPHA:2143
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Ventricular septal defect, Hypospadias, Horseshoe kidney	OMIM:218350
Restrictive Dermopathy	Decreased fetal movement, Ureteral duplication, Premature birth, Dextrocardia, Premature delivery...	ORPHA:1662
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Atrial septal d...	OMIM:618109
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu...	OMIM:232300
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Urinary incontinence, Hepatosplenomegaly	OMIM:268800
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Furrowed tongue...	OMIM:616975
Joubert Syndrome 8	Hepatomegaly, Prolonged neonatal jaundice	OMIM:612291
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Multiple Pterygium-Malignant Hyperthermia Syndrome	Prenatal movement abnormality, Cryptorchidism, Amniotic constriction ring, Polyhydramnios	ORPHA:2215
Fanconi Anemia, Complementation Group Q	Short stature, Esophageal atresia, Biliary atresia, Growth delay, Anteriorly placed anus	OMIM:615272
Congenital Myopathy 17	Polyhydramnios, Fetal akinesia sequence, Renal hypoplasia, Ureteropelvic junction obstruction, Hy...	OMIM:618975
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hyperuricemia, Hyperammonemia	ORPHA:134
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Facial edema, Polyhydramnios	ORPHA:86822
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Arthrogryposis Multiplex Congenita 5	Decreased fetal movement, Cardiac arrest, Polyhydramnios, Umbilical hernia, Medullary nephrocalci...	OMIM:618947
Meningococcal Meningitis	Renal insufficiency, Elevated circulating C-reactive protein concentration	ORPHA:33475
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Protuberant abdomen	ORPHA:457485
Mosaic Trisomy 16	Ventricular septal defect, Premature birth, Hypospadias, Large placenta, Horseshoe kidney, Abnorm...	ORPHA:1708
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscro...	OMIM:270400
Filippi Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:272440
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	OMIM:272200
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Telangiectasia, Atrial septal defect, Umbilical hernia, Tetralogy of F...	OMIM:612582
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short stature, Renal cyst, Horseshoe kidney	OMIM:250410
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Urethral atresia, Hydronephrosis	OMIM:271520
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Hydronephrosis, Edema	OMIM:302960
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, H...	ORPHA:340
Neurooculorenal Syndrome	Dextrocardia, Intestinal malrotation, Mitral valve prolapse, Anteriorly placed anus, Tetralogy of...	OMIM:620305
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ...	ORPHA:1727
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Fetal polyuria, Premature birth, Polyuria, Polyhydramnios, Renal salt wasting, ...	OMIM:241200
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Left ventricular hypertrophy, Lipiduria	OMIM:301500
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exo...	OMIM:219700
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Inverted Duplicated Chromosome 15 Syndrome	Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis	ORPHA:3306
Feingold Syndrome	Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas	ORPHA:1305
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Polyhydramnios, Splenomegaly, Jaundice, Fetal distress	OMIM:608885
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:603387
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Ca...	OMIM:613254
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h...	ORPHA:93271
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Pineal ...	OMIM:617516
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Giant Cell Arteritis	Hematuria, Renal insufficiency, Hepatic failure	ORPHA:397
Distal Deletion 15Q	Multicystic kidney dysplasia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorch...	ORPHA:1596
Opsismodysplasia	Renal phosphate wasting, Polyhydramnios, Edema, Oligohydramnios	OMIM:258480
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Polyhydramnios, Epispadias, Abnormality of the ureter, Ab...	ORPHA:3339
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Otospondylomegaepiphyseal Dysplasia	Polyhydramnios	ORPHA:1427
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co...	ORPHA:94093
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Double outlet right ve...	ORPHA:3304
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea...	ORPHA:2131
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Decreased fetal movement, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenc...	ORPHA:456312
Spondyloenchondrodysplasia	Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hepat...	ORPHA:1855
Lamellar Ichthyosis	Renal insufficiency	ORPHA:313
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p...	OMIM:612863
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Decreased response to gro...	OMIM:601808
Tetrasomy 15Q26	Atrial septal defect, Hydronephrosis, Horseshoe kidney	OMIM:614846
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Prader-Willi Syndrome	Decreased fetal movement, Low 5-minute APGAR score, Decreased response to growth hormone stimulat...	OMIM:176270
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased fetal movement, Decreased response to growth hormone stimulation test, Polyhydramnios, ...	OMIM:213980
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Chronic diarrhea, Vomiting, Abdominal distention	OMIM:620233
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel...	OMIM:613001
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism	ORPHA:776
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrioventricular canal defect, Jaundice, Dilated cardiomyopathy, Cholestasis, Biven...	OMIM:619573
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria	ORPHA:86818
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Macroglossia, Varicose veins, Nephroblastoma, Bifid ureter, Renal ...	OMIM:617107
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Single umbilical artery, Ventricular septal defect, Hydrocele testis	OMIM:145420
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect	OMIM:619356
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Splenomegaly, Prolonged neonatal jau...	OMIM:257220
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm...	ORPHA:98907
X-Linked Lissencephaly With Abnormal Genitalia	Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Exocrine pancreatic insufficiency	ORPHA:452
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of...	ORPHA:2092
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ...	ORPHA:96147
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Proximal tubulopathy	ORPHA:2609
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Umbilical hernia, Patent fo...	ORPHA:369891
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Polyhydramnios	OMIM:617296
Coffin-Siris Syndrome 6	Atrial septal defect	OMIM:617808
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Branchial cyst, Ectopic posterior pituitary, Truncus arteriosus, Ven...	ORPHA:508488
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Cryptorchidism, Patent foramen ovale, Hydronephrosis	OMIM:620327
Serotonin Syndrome	Acute kidney injury, Hepatic failure	ORPHA:43116
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Heart murmur, Single umbilical artery, Vesicoureteral reflu...	OMIM:618653
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale	OMIM:615156
Constricting Bands, Congenital	Ectopia cordis, Abnormal lung lobation, Cleft palate	OMIM:217100
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97283
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Bladder diverticulum, Mitral r...	OMIM:614557
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration	OMIM:617388
Atelosteogenesis, Type I	Encephalocele, Premature birth, Polyhydramnios, Cryptorchidism, Stillbirth, Neonatal death	OMIM:108720
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo...	ORPHA:99050
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Okur-Chung Neurodevelopmental Syndrome	Umbilical hernia, Polyhydramnios, Abnormal heart morphology	OMIM:617062
Monosomy 13Q34	Epistaxis, Fetal pyelectasis, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis	ORPHA:96168
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Hepatoerythropoietic Porphyria	Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Red-brown urine, Red urine, Abn...	ORPHA:95159
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Umbilical hernia, Patent foramen ovale, Renal hypoplasia, Pulmonic stenosis	OMIM:618914
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly	OMIM:612387
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Horsesh...	OMIM:613680
Transcobalamin Ii Deficiency	Hepatomegaly, Methylmalonic aciduria	OMIM:275350
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Penile hypospadias, Hepatic hemangioma	ORPHA:73230
Esophageal Atresia	Ventricular septal defect, Renal agenesis, Polyhydramnios, Abnormality of the urinary system, Abs...	ORPHA:1199
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Panhypopituitarism, Decreased response to growth hormone stimulation test, Polyhydramnios	OMIM:618922
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrhosis	OMIM:308230
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Bilateral cryptorchidism, Increased nuchal translucency, Polyhydramnios	ORPHA:544488
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Urinary incontinence, Bowel incontinence	ORPHA:309271
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, R...	ORPHA:565612
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Edema, Anisocytosis, Splenomegaly, ...	ORPHA:79277
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis	OMIM:300519
Hamamy Syndrome	Hypoparathyroidism, Prolonged QRS complex, Complete atrioventricular canal defect, Cryptorchidism...	OMIM:611174
Bainbridge-Ropers Syndrome	Supernumerary nipple, Polyhydramnios, Breech presentation, Cryptorchidism, Caesarian section	OMIM:615485
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ...	ORPHA:31824
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Arterial rupture	OMIM:619115
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Atrial septal defect, Aortic v...	ORPHA:459061
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Displacement of the urethral meatus, Patent ductus arteriosus, Arte...	ORPHA:1556
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hepatomegaly, Ascites, Hypoalbuminemia	OMIM:226300
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Abdominal distention...	ORPHA:653
Lissencephaly Due To Lis1 Mutation	Polyhydramnios	ORPHA:95232
Chilton-Okur-Chung Neurodevelopmental Syndrome	Decreased fetal movement, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyposp...	OMIM:619841
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly	OMIM:619183
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Rubinstein-Taybi Syndrome	Cryptorchidism, Polyhydramnios	ORPHA:783
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Intraventricular hemorrhage, Polyhydramnios	OMIM:613603
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:617452
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Genitopatellar Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Short stature, Hydronephrosis	ORPHA:85201
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hydronephrosis	ORPHA:457193
Erdheim-Chester Disease	Hydronephrosis, Renal insufficiency, Dysuria, Retroperitoneal fibrosis	ORPHA:35687
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Mitral regurgitation, Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Dehydration, Umbilical her...	ORPHA:96191
Duplication Of The Pituitary Gland	Encephalocele, Abnormal pituitary gland morphology, Polyhydramnios	ORPHA:314621
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C...	OMIM:602782
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Horseshoe kidney, Hepatic failure	ORPHA:46059
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses...	ORPHA:391641
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Diarrhea, Colitis, Abdominal pain	ORPHA:309031
Jacobsen Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Ventricular septal defect, Premat...	ORPHA:2308
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Horseshoe kidney, Polyhydramnios, Mitral valve prolapse	ORPHA:508533
Kagami-Ogata Syndrome	Hepatoblastoma, Large placenta, Premature birth, Polyhydramnios	ORPHA:254519
Spondylometaphyseal Dysplasia, Schmidt Type	Polyhydramnios	ORPHA:93316
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Prominent superficial veins, Recurrent urinary tract infections, Perianal abscess, ...	OMIM:612541
Shashi-Pena Syndrome	Atrial septal defect, Mild fetal ventriculomegaly, Unilateral renal agenesis	OMIM:617190
Sotos Syndrome	Decreased fetal movement, Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, M...	OMIM:117550
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Milroy Disease	Hydrocele testis, Varicose veins, Abnormal venous morphology	ORPHA:79452
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Urinary incontinence, Polyhydramnios	ORPHA:496641
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Atrial septal defect, Pulmonary arterial hypertension, Hy...	OMIM:616449
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Decreased serum zinc, Decreased testicular size	OMIM:201100
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Anterior encephalocele	OMIM:601357
Fg Syndrome Type 1	Premature birth, Hypospadias, Cryptorchidism, Mitral valve prolapse, Umbilical hernia, Small pitu...	ORPHA:93932
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hydronephrosis, Oligohydramnios	OMIM:619431
Hellp Syndrome	Elevated hepatic transaminase, Hemoglobinuria, Acute kidney injury, Proteinuria	ORPHA:244242
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Ventricular septal defect, Hypospadias, Megacystis, Vesic...	ORPHA:209905
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Short stature, Hypospadias, Abnormality of the kidney,...	ORPHA:1606
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Myelomeningoce...	ORPHA:2369
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Lacticaciduria, Hype...	ORPHA:3008
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Protuberant abdomen	OMIM:264700
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Leptospirosis	Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum trans...	ORPHA:509
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Arteriovenous malformation, Ovarian neoplasm	ORPHA:137608
Von Willebrand Disease	Venous insufficiency	ORPHA:903
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Hypospadias, Heart murmur, Perimembranous ventricular septal defect, A...	OMIM:158170
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Peters Plus Syndrome	Decreased fetal movement, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Polyhy...	ORPHA:709
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro...	OMIM:617052
Mixed Connective Tissue Disease	Splenomegaly, Nephropathy, Hepatomegaly	ORPHA:809
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:505237
Presynaptic Congenital Myasthenic Syndromes	Decreased fetal movement, Polyhydramnios	ORPHA:98914
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Mitral valve pro...	OMIM:218040
Congenital Myasthenic Syndrome	Decreased fetal movement, Polyhydramnios	ORPHA:590
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pulmonary stenosis, Spina...	OMIM:300707
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Micropenis, Cholelithiasis, Decreased testicular size	OMIM:300534
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Polyhydramnios, Splenomegaly, Horseshoe kidney, Atrioventricular canal defect	OMIM:617088
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Cholestasis, Portal fibrosis, Pulmonic stenosis, Hepatic steatosis	OMIM:614300
Deeah Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:619004
Periventricular Nodular Heterotopia 7	Cryptorchidism, Ventricular septal defect	OMIM:617201
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria...	ORPHA:191
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splen...	ORPHA:77293
Bdv Syndrome	Atrial septal defect, Cryptorchidism, Micropenis	OMIM:619326
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Trisomy 18	Ventricular septal defect, Abnormality of the upper urinary tract, Spina bifida, Cryptorchidism, ...	ORPHA:3380
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria	OMIM:616901
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ...	OMIM:607330
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Cryptorchidism, Atr...	ORPHA:2008
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Meningocele, Anencephaly, Spina...	ORPHA:1908
Thyroid Ectopia	Abdominal distention, Constipation	ORPHA:95712
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog...	ORPHA:576
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Hypospadias, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Dilatation of the ventric...	ORPHA:459070
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Glossoptosis, High palat...	OMIM:616145
Schwartz-Jampel Syndrome	Prenatal movement abnormality, Polyhydramnios, Abnormality of the ureter, Nephrolithiasis, Abnorm...	ORPHA:800
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose...	OMIM:125310
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Hydronep...	OMIM:300712
Omenn Syndrome	Splenomegaly, Hepatomegaly, Hypoproteinemia, Hypoplasia of the thymus	OMIM:603554
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Iniencephaly	Encephalocele, Renal agenesis, Spina bifida, Polyhydramnios, Myelomeningocele, Anencephaly, Spina...	ORPHA:63259
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619383
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Mitral stenosis, Oligohydram...	ORPHA:96201
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Hepatitis, Hematuria	ORPHA:728
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react...	ORPHA:900
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Pulmonic stenosis	OMIM:618282
Duane-Radial Ray Syndrome	Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl...	OMIM:607323
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Abnormal heart morphology...	ORPHA:457279
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Oligohydramnios	ORPHA:158687
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale	OMIM:620075
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria	ORPHA:220393
Brachydactyly, Type B1	Micropenis, Ventricular septal defect	OMIM:113000
Coccidioidomycosis	Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, Abnormali...	ORPHA:228123
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	ORPHA:93352
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Hepatosplenomegaly, Palpebral edema, Oligosacchariduria	ORPHA:397709
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, High, narrow palate, Narrow palate, High palate, Transposit...	OMIM:614976
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Splenomega...	OMIM:188400
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis	ORPHA:183
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Pulmonary hypoplasia, Hyperecho...	OMIM:615636
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Vesicoureteral...	ORPHA:494344
Distal Deletion 10Q	Premature birth, Functional abnormality of the bladder, Spina bifida occulta, Vesicoureteral refl...	ORPHA:96148
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Nephroblastoma, Myeloid leukemia, Recurrent pneumonia, Abnormality of ...	ORPHA:798
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Mitochondrial swelling, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp...	ORPHA:230851
Codas Syndrome	Extrahepatic biliary duct atresia, Hydroureter, Ventricular septal defect	ORPHA:1458
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent foramen ovale, Oligohydramnios	OMIM:620113
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Umbilical hernia, Hypertrophic cardiomyopathy, Ventricular septal defect, Cryptorchidism	OMIM:612938
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv...	OMIM:614823
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration	OMIM:612852
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Stevenson-Carey Syndrome	Atrial septal defect, Recurrent urinary tract infections	OMIM:611961
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Horse...	OMIM:619103
Kapur-Toriello Syndrome	Ventricular septal defect, Cryptorchidism, Abnormality of the urinary system, Atrial septal defec...	OMIM:244300
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Spina bifida, Bilateral...	OMIM:180849
Cono-Spondylar Dysplasia	Polyhydramnios	ORPHA:420794
Charge Syndrome	Hypoparathyroidism, Overriding aorta, Ventricular septal defect, Renal agenesis, Polyhydramnios, ...	OMIM:214800
Oculoectodermal Syndrome	Transient ischemic attack, Supernumerary nipple, Lymphedema, Pineal cyst, Atrial septal defect, H...	OMIM:600268
Buratti-Harel Syndrome	Atrial septal defect, Cryptorchidism, Hypospadias	OMIM:619314
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr...	ORPHA:99826
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly	OMIM:617591
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Neu-Laxova Syndrome	Decreased fetal movement, Spina bifida, Polyhydramnios	ORPHA:2671
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypoammonemi...	ORPHA:534
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Hypomandibular Faciocranial Dysostosis	Atrial septal defect	OMIM:241310
Congenital Analbuminemia	Premature birth, Edema, Facial edema, Pedal edema, Low pulse pressure, Oligohydramnios	ORPHA:86816
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Growth delay, High palate, Rectovaginal fistula, M...	ORPHA:171929
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia	OMIM:184705
Tetrasomy 9P	Pericarditis, Dextrocardia, Cleft palate, Abnormal cardiac septum morphology, High palate, Pulmon...	ORPHA:3310
Cerebrofaciothoracic Dysplasia	Polyhydramnios	ORPHA:1394
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decreased urinary potassium...	ORPHA:95409
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Foix-Alajouanine Syndrome	Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio...	ORPHA:79093
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Cleft ...	ORPHA:33001
Pmm2-Cdg	Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Re...	ORPHA:79318
Proteus-Like Syndrome	Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality of the parathyroid gland, Pol...	ORPHA:2969
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Arrhythmia, Patent foramen ovale, Hypospadias	OMIM:619184
Gamma-Heavy Chain Disease	Splenomegaly, Hepatomegaly	ORPHA:100026
Isolated Exencephaly	Posterior pituitary agenesis, Anterior pituitary hypoplasia, Polyhydramnios	ORPHA:563612
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Bohring-Opitz Syndrome	Recurrent respiratory infections, Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morpholog...	ORPHA:97297
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas...	ORPHA:84
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Coronary artery fistula, Ne...	OMIM:620024
Waardenburg Syndrome Type 3	Atrial septal defect	ORPHA:896
Cooper-Jabs Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1488
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Polyhydramn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Polyhydramn...	ORPHA:353277
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Short stature, Cleft palate, Glossoptosis, Intrauterine growth reta...	ORPHA:1393
Menkes Disease	Malabsorption, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bladder divertic...	ORPHA:565
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Premature birth, Lymphedema, Cryptorchidism, Pulmonic stenosis, ...	ORPHA:1340
Achondroplasia	Premature rupture of membranes, Polyhydramnios	OMIM:100800
Pelger-Huet Anomaly	Umbilical hernia, Ventricular septal defect	OMIM:169400
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellu...	ORPHA:90062
Sarcoidosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Portal hypertension, Enlarged lacrimal glands, ...	ORPHA:797
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At...	OMIM:121050
3P25.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Listeriosis	Liver abscess, Jaundice, Peritonitis, Pyelonephritis, Hepatic granulomatosis, Cholecystitis, Sple...	ORPHA:533
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Feeding difficulties, Protuberant abdomen, Tube feeding, Micropenis	OMIM:619479
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Cryptorchidism, Double outlet right ventricle, Micropenis...	ORPHA:163956
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Primary Sjögren Syndrome	Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glomerulonephritis, Bil...	ORPHA:289390
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect	OMIM:619909
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Liver abscess	ORPHA:379
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Multiple glomerular cysts, Low plasma citrulline, Lacticaciduria, Hyperalaninemia, ...	ORPHA:255210
Yunis-Varon Syndrome	Absent nipple, Ventricular septal defect, Premature birth, Polyhydramnios, Hypospadias, Cryptorch...	OMIM:216340
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Increased nuchal translucency, Hypertrophy of the urinary bladder, Unilateral renal ...	ORPHA:280633
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Genitopatellar Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Atrial s...	OMIM:606170
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Gonadotropin deficiency, Ventricular septal defect, Decreased response to g...	OMIM:610978
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Premature birth, Polyhydramnios, Hepatoblastoma, Large p...	ORPHA:96334
Kyphoscoliotic Ehlers-Danlos Syndrome	High palate, Bicuspid aortic valve, Dextrocardia	ORPHA:536545
Mercury Poisoning	Hypokalemia, Acute kidney injury	ORPHA:330021
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis	OMIM:133540
Pyomyositis	Renal insufficiency, Testicular teratoma	ORPHA:764
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Vitamin D-Dependent Rickets, Type 2A	Protuberant abdomen	OMIM:277440
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis	OMIM:216400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Ventricular septal defect	OMIM:617061
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c...	ORPHA:98908
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Urinary incontinence	ORPHA:476126
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect	OMIM:611926
Lethal Congenital Contracture Syndrome 9	Decreased fetal movement, Short umbilical cord, Polyhydramnios, Absence of stomach bubble on feta...	OMIM:616503
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97280
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Umbilical hernia, Abnormal mitral valve morphology	ORPHA:1292
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux	ORPHA:140952
Congenital Fiber-Type Disproportion Myopathy	Decreased fetal movement, Cor pulmonale, Polyhydramnios, Abnormal heart morphology	ORPHA:2020
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Periorbital edema, Breech presentation, Hypoplasia of the thymus, Multiple blad...	OMIM:613177
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:158048
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Umbilical hernia, Supravalvular aortic stenosis, Oligohydramnios	OMIM:219100
Hurler Syndrome	Heparan sulfate excretion in urine, Protuberant abdomen, Urinary glycosaminoglycan excretion, Der...	OMIM:607014
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia, Abnormal intrahepatic...	ORPHA:363618
Enlarged Parietal Foramina	Venous malformation, Abnormal cerebral vein morphology, Cleft palate	ORPHA:60015
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Mitral valve prolapse, B...	OMIM:617402
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ...	ORPHA:324
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Hypospadias	ORPHA:464738
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Polycythemia Vera	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	ORPHA:729
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Branchial fistula, Recurrent urinary tract infections, Ventricular septal d...	ORPHA:261330
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, V...	OMIM:619951
Steinert Myotonic Dystrophy	Decreased fetal movement, Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic d...	ORPHA:273
Shwachman-Diamond Syndrome 2	Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus, Patent ductus arteriosus	OMIM:619480
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage	ORPHA:624
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Heart murmur, Intracr...	ORPHA:163979
Mesomelia-Synostoses Syndrome	Hydronephrosis, Short umbilical cord, Polyhydramnios	OMIM:600383
Idiopathic Hypereosinophilic Syndrome	Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,...	ORPHA:3260
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Atrial ...	OMIM:147791
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypertensi...	OMIM:100300
Myopathy With Extrapyramidal Signs	Splenomegaly, Hepatomegaly, Ventricular septal defect	OMIM:615673
Gaucher Disease, Type Ii	Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia	OMIM:230900
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Ogden Syndrome	Cardiogenic shock, Arrhythmia, Ventricular septal defect, Cryptorchidism	ORPHA:276432
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Hematuria, Inc...	ORPHA:60025
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Submucous cleft hard palate, Double outlet right ventric...	OMIM:300166
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Protuberant abdomen	ORPHA:289157
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Hepatic steatosis, Decreased tes...	OMIM:619321
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Ne...	ORPHA:544482
Pancreatic Agenesis-Holoprosencephaly Syndrome	Reduced C-peptide level, Pancreatic aplasia, Hypoamylasemia, Absent gallbladder	ORPHA:556955
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cryptorchid...	OMIM:610443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, ...	OMIM:253800
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Hepatomegaly	OMIM:301078
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation...	OMIM:614114
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem...	ORPHA:904
Fanconi Anemia, Complementation Group B	Single umbilical artery, Renal agenesis, Ventricular septal defect, Micropenis	OMIM:300514
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect	ORPHA:79113
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Premature birth, Abnormality of pr...	OMIM:619229
Al Kaissi Syndrome	Atrial septal defect	OMIM:617694
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Ventricular septal defect	ORPHA:3078
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria	ORPHA:761
Liposarcoma	Varicose veins, Abnormality of the kidney	ORPHA:69078
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Increased nuchal translucency, Ventricular septal defect	ORPHA:79345
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis...	ORPHA:2785
Charge Syndrome	Polyhydramnios, Cryptorchidism, Horseshoe kidney, Abnormal cardiac septum morphology, Abnormal ao...	ORPHA:138
Hajdu-Cheney Syndrome	Hepatomegaly, Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Hypos...	ORPHA:955
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur...	ORPHA:2438
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Lymphedema, Enlarged polycystic ovaries, Splenomegaly, N...	ORPHA:744
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:231005
Renal Nutcracker Syndrome	Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ...	ORPHA:71273
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Recombinant 8 Syndrome	Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Atrial septal defect, Tetra...	ORPHA:96167
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect	OMIM:614526
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hypospadias	OMIM:617602
Loeys-Dietz Syndrome 6	Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a...	OMIM:619656
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Junctional ectopic tachycardia, Chordee...	OMIM:309801
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Bicuspid aortic valve	OMIM:619720
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Complete atrioventricular canal defect, Neonatal death, Micropenis, Tetralogy...	OMIM:617925
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	OMIM:608688
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Turnpenny-Fry Syndrome	Aortic regurgitation, Polyhydramnios, Mitral valve prolapse, Tricuspid valve prolapse, Atrial sep...	OMIM:618371
Opitz Gbbb Syndrome	Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicoureteral reflux, ...	ORPHA:2745
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Campomelic Dysplasia	Hypospadias, Spina bifida, Polyhydramnios, Abnormal heart morphology, Spinal dysraphism, Hydronep...	OMIM:114290
Atelosteogenesis Type Ii	Polyhydramnios	ORPHA:56304
Immunodeficiency 110 With Lymphoproliferation	Secundum atrial septal defect, Patent foramen ovale	OMIM:614868
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Transposition of the great arteries	OMIM:619910
Zygomycosis	Renal insufficiency, Peritonitis, Hepatitis, Splenic abscess, Nephritis, Pancreatitis	ORPHA:73263
Filippi Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	ORPHA:3255
Zaki Syndrome	Renal agenesis, Patent foramen ovale, Hydronephrosis	OMIM:619648
Congenital Tracheomalacia	Ventricular septal defect, Premature birth, Cardiomegaly, Partial anomalous pulmonary venous retu...	ORPHA:95430
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posteri...	OMIM:300000
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular...	ORPHA:1900
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Pulmonic stenosis,...	OMIM:610759
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Abnormal heart morpholog...	ORPHA:97360
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Horseshoe kidney	OMIM:300867
Agel Amyloidosis	Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Tetralogy of Fallot, Ectopic a...	ORPHA:1507
Short Stature-Micrognathia Syndrome	Cryptorchidism, Micropenis, Ventricular septal defect, Penoscrotal hypospadias	OMIM:617164
Hermansky-Pudlak Syndrome 1	Renal insufficiency	OMIM:203300
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas, Patent ductus arteriosus	OMIM:618162
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Cryptorchidism, Micropenis, Vesicoureteral reflux	OMIM:609625
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Macroorchidism, Ventricular septal defect	OMIM:309520
Ellis-Van Creveld Syndrome	Hypospadias, Epispadias, Cryptorchidism, Atrial septal defect, Common atrium	OMIM:225500
Proximal Spinal Muscular Atrophy	Atrial septal defect, Decreased fetal movement, Bradycardia	ORPHA:70
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:300963
Peters-Plus Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Polyhydramnios, Bilobate gallbladde...	OMIM:261540
X-Linked Acrogigantism	Abdominal distention	ORPHA:300373
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Constipation	OMIM:218700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Hypospadias	ORPHA:77298
Doors Syndrome	Thickened nuchal skin fold, Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasi...	ORPHA:79500
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Micropenis, Ventricular septal defect	OMIM:620073
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Char Syndrome	Ventricular septal defect, Supernumerary nipple	ORPHA:46627
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration	OMIM:213700
Autosomal Dominant Spastic Paraplegia Type 10	Urinary urgency, Varicose veins, Spastic/hyperactive bladder	ORPHA:100991
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Cryptorchidism, Increased...	ORPHA:352665
Spondyloocular Syndrome	Unilateral cryptorchidism, Lymphedema, Mitral valve prolapse, Atrial septal defect, Dysplastic ao...	OMIM:605822
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Atrial septal defect, Decreased fetal movement	OMIM:614207
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Cranioectodermal Dysplasia 4	Stage 5 chronic kidney disease	OMIM:614378
Tetraamelia Syndrome 2	Micropenis, Absent nipple, Ventricular septal defect	OMIM:618021
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Supernumerary nipple, Atrial septal defec...	OMIM:257920
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin...	ORPHA:466677
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple, Hypospadias	ORPHA:217346
Kapur-Toriello Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Chops Syndrome	Ventricular septal defect, Cryptorchidism, Splenomegaly, Anomalous pulmonary venous return, Horse...	OMIM:616368
Radio-Tartaglia Syndrome	Ventricular septal defect, Fetal distress	OMIM:619312
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Di...	ORPHA:95455
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypos...	ORPHA:508498
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Breech presentation, Retinal hemorrhage, Hypertension, Br...	OMIM:614653
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid...	OMIM:308205
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Atrial...	ORPHA:769
Fanconi Anemia, Complementation Group N	Nephroblastoma, Ventricular septal defect	OMIM:610832
Renal Agenesis, Bilateral	Fetal polyuria, Sirenomelia, Renal agenesis, Oligohydramnios	ORPHA:1848
Phaver Syndrome	Myelomeningocele, Ventricular septal defect	ORPHA:2876
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly	OMIM:301066
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Umbilical hernia, Ventricular septal defect, Proteinuria	OMIM:222448
Magel2-Related Prader-Willi-Like Syndrome	Decreased fetal movement, Cryptorchidism, Xerostomia, Small pituitary gland, Atrial septal defect...	ORPHA:398069
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Pulmonary arterial hypertension	ORPHA:261279
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Kasabach-Merritt Syndrome	Abdominal distention, Abdominal pain	ORPHA:2330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Vesicoureteral reflux	OMIM:614749
Hypothyroidism, Congenital, Nongoitrous, 5	Mitral regurgitation, Patent foramen ovale, Thyroid hypoplasia, Ectopic thyroid	OMIM:225250
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Renal agenesis, Cryptorchidism, Perimembranous ventricula...	OMIM:301040
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Schneckenbecken Dysplasia	Cryptorchidism, Polyhydramnios, Lymphedema	ORPHA:3144
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia	OMIM:181270
Townes-Brocks Syndrome	Hypoplasia of penis, Rectoperineal fistula, Short stature, Hypospadias, Renal insufficiency, Ecto...	ORPHA:857
Behçet Disease	Glomerulopathy, Renal insufficiency, Orchitis, Splenomegaly, Pancreatitis	ORPHA:117
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Micropenis, Ventricular septal defect, Supernumerary nipple, Hypospadias	OMIM:106260
Multisystemic Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Cryptorchidism	OMIM:613834
Mucopolysaccharidosis Type 3	Heparan sulfate excretion in urine, Mucopolysacchariduria, Urinary glycosaminoglycan excretion, C...	ORPHA:581
7Q31 Microdeletion Syndrome	Atrial septal defect, Galactosuria, Enuresis nocturna	ORPHA:251061
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363958
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Breast aplasia,...	ORPHA:3138
Fetal Alcohol Syndrome	Atrial septal defect	ORPHA:1915
16P13.11 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:261236
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Atrial septal defect, Umbilical hernia...	ORPHA:1519
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Viss Syndrome	Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Polyhydramnios, Mitra...	OMIM:619472
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Micropenis, Pancreatitis	OMIM:619471
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Hypospadias	ORPHA:436003
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Ventricular septal defect, Hypospadias, Renal agenesis,...	OMIM:192350
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale, Hydronephrosis	OMIM:619179
C Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe...	ORPHA:1308
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Ventricular septal defect, Decreased response to growth hormone stimulation t...	ORPHA:488632
White-Sutton Syndrome	Atrial septal defect, Duplicated collecting system, Patent foramen ovale	OMIM:616364
Wiedemann-Steiner Syndrome	Atrial septal defect, Cryptorchidism	OMIM:605130
Cardiospondylocarpofacial Syndrome	Decreased fetal movement, Ventricular septal defect, Muscular ventricular septal defect, Dysplast...	OMIM:157800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Cyst of the ductus choledochus, Patent ductus arteriosus, Hypoplastic nipples, H...	ORPHA:480880
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619121
Poland Syndrome	Atrial septal defect, Dextrocardia	ORPHA:2911
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Splenomegaly...	ORPHA:2729
Lateral Meningocele Syndrome	Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Meningocele...	OMIM:130720
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Unilateral breast hypoplasia, Renal dysplasia, Hydronephrosis	OMIM:300968
Spondylocarpotarsal Synostosis Syndrome	Renal cyst, Disproportionate short-trunk short stature, Cleft palate	OMIM:272460
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly, Micropenis, Thickened nuchal skin fold	OMIM:620076
Maternal Phenylketonuria	Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Hypoplastic left...	ORPHA:2209
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Occipital Horn Syndrome	Recurrent urinary tract infections, Hiatus hernia, Venous insufficiency, High, narrow palate, Jau...	ORPHA:198
8P11.2 Deletion Syndrome	Hypoplasia of penis, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Atrial septal defect	ORPHA:251066
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Portal hypertension, Abno...	OMIM:194050
Lateral Meningocele Syndrome	Umbilical hernia, Meningocele, Ventricular septal defect, Cryptorchidism	ORPHA:2789
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Hepatomegaly, Liver abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Hepatomegaly, Liver abscess	OMIM:233710
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Hypertension, Atrial septal defect, Ureteropelvic junction obstruction, Ol...	OMIM:300896
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Abnormal renal morphology	OMIM:207410
Distal Deletion 19P	Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves...	OMIM:616580
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect	OMIM:620194
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Hepatosplenomega...	ORPHA:3385
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Premature birth, Congestive heart failure, Renal h...	OMIM:105650
Leigh Syndrome	Ventricular septal defect, Congestive heart failure, Lacticaciduria, Methylmalonic aciduria, Gene...	ORPHA:506
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Breast hypoplasia	ORPHA:1439
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:617798
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Hepatomegaly, Liver abscess	OMIM:233690
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Decreased pl...	ORPHA:79408
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Atri...	ORPHA:96121
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Loeys-Dietz Syndrome 5	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Mitral regurgitation	OMIM:615582
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect	OMIM:619143
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Absent nipple, Cryptorchidi...	OMIM:612289
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease	ORPHA:25
Glomuvenous Malformation	Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio...	ORPHA:83454
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney disease, Abnormality of the...	ORPHA:90340
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Annular pancreas	ORPHA:488642
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Thakker-Donnai Syndrome	Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal heart morphology, Melena, Hematochezia, Intestinal bleeding...	ORPHA:79076
Dyggve-Melchior-Clausen Disease	Protuberant abdomen	ORPHA:239
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Recurrent urinary tract infections, Ventricular septal defect, Abnormal pul...	ORPHA:268261
Coffin-Siris Syndrome	Ventricular septal defect, Hypospadias, Hepatoblastoma, Cryptorchidism, Horseshoe kidney, Abnorma...	ORPHA:1465
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Renal hypoplasia, Polyhydramnios, Pseudohypoparathyroidism	OMIM:617157
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Supernumerary nipple	OMIM:612530
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Stage 5 chronic kidney disease	OMIM:608612
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr...	OMIM:613457
Keppen-Lubinsky Syndrome	Decreased testicular size, Polyhydramnios	ORPHA:435628
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Vesi...	OMIM:616894
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal a...	OMIM:617140
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr...	OMIM:272950
Combined Oxidative Phosphorylation Deficiency 3	Decreased fetal movement, Hepatomegaly, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo...	OMIM:610505
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Ade...	ORPHA:733
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Anteriorly placed anus, Cryptorchidism, Hypospadias, Renal cyst	ORPHA:495875
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Cryptorc...	OMIM:227645
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Retinal hemorrha...	OMIM:609049
Noonan Syndrome 1	Ventricular septal defect, Hypospadias, Lymphedema, Cryptorchidism, Chylothorax, Pulmonic stenosi...	OMIM:163950
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Feeding difficulties, Gastroesophageal reflux, Protuberant ab...	OMIM:616268
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Decreased response to growth hormone stimulation test, Anterior pituit...	ORPHA:177907
Keppen-Lubinsky Syndrome	Polyhydramnios	OMIM:614098
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Diamond-Blackfan Anemia 10	Renal duplication, Ventricular septal defect, Ectopic kidney	OMIM:613309
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney	OMIM:174300
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Abnormal T-wave, Ureteropelvic ...	ORPHA:444072
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect	ORPHA:93947
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Multicystic kidney dysplasia, Hypospadias, Renal insufficie...	OMIM:107480
Wolf-Hirschhorn Syndrome	Decreased fetal movement, Abnormal heart valve morphology, Hypospadias, Abnormality of the kidney...	ORPHA:280
Ramos-Arroyo Syndrome	Atrial septal defect, Xerostomia	ORPHA:1051
De Barsy Syndrome	Decreased fetal movement, Ventricular septal defect, Cryptorchidism, Premature rupture of membran...	ORPHA:2962
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Chylothorax, Atrial septal defect, Pleural effusion	ORPHA:2526
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Splenomegaly	OMIM:612132
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri...	ORPHA:466791
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Intestinal malrotation, Hypospa...	ORPHA:199
Marshall-Smith Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contra...	OMIM:602535
Neurofibroma	Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect	ORPHA:457351
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Unilatera...	ORPHA:261337
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bu...	OMIM:617403
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo...	ORPHA:363700
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Hypoplastic nipples	ORPHA:261323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con...	OMIM:615287
Tarp Syndrome	Cryptorchidism, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Hydronephrosis	ORPHA:2886
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Abnormal heart valve morphology, Lymphedema, Cryptorchidism, Pulmonic s...	ORPHA:536471
Pallister-Hall Syndrome	Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atrioventricular canal...	ORPHA:672
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:2162
Cohen Syndrome	Cryptorchidism, Decreased fetal movement, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Thymic Carcinoma	Abnormal vena cava morphology	ORPHA:99868
Microphthalmia With Limb Anomalies	Short stature, Venous insufficiency, Cryptorchidism, Horseshoe kidney, Cleft palate, High palate	ORPHA:1106
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Renal tubular acidosis, Ventricular septal defect, Caesarian section	OMIM:619575
Livedoid Vasculopathy	Venous insufficiency, Varicose veins, Abnormal capillary morphology, Ischemic stroke	ORPHA:542643
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Hepatoblastoma, Splenopancreatic fusion, Hypoplastic...	OMIM:269150
Erythrocytosis, Familial, 2	Varicose veins, Stroke, Cerebral hemorrhage	OMIM:263400
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect	OMIM:602482
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Cryptorchidism, Mitral valve prolapse, Nephrotic s...	OMIM:601776
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:251014
Vici Syndrome	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Left vent...	OMIM:242840
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353281
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Hermansky-Pudlak Syndrome	Renal insufficiency	ORPHA:79430
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Umbilical hernia, Tetralogy of Fallot	OMIM:192430
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Spina bifida occulta, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Varicose Veins	Varicose veins	OMIM:192200
Witteveen-Kolk Syndrome	Branchial fistula, Hypospadias, Decreased response to growth hormone stimulation test, Polyhydram...	OMIM:613406
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatic steatosis, Hepatomegaly, Hypospadias, Abnormal renal collecting system morphology, Methyl...	ORPHA:17
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Ventricular septal defect	OMIM:300472
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormality of the hepatic vasculature, Abnormal vena cava morphology, Atrial septa...	ORPHA:1677
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Hypospadias, Polyhydramnios, Supernumerar...	OMIM:601803
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:609069
Pyknoachondrogenesis	Abdominal distention	ORPHA:3003
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Cryptorchidism, Micropenis, Ventricular septal defect, Decreased testicular size	ORPHA:251028
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Ventricular septa...	OMIM:280000
Gabriele-De Vries Syndrome	Cryptorchidism, Ureteropelvic junction obstruction, Patent foramen ovale, Hydronephrosis	OMIM:617557
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:142900
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Supernumerary nipple, Postnatal growth retardation, Malrotation of c...	OMIM:113620
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Umbilical hernia, Micropenis, Pa...	OMIM:613884
Mowat-Wilson Syndrome	Hypospadias, Abnormality of the kidney, Abdominal distention, Constipation, Vomiting	OMIM:235730
Trichothiodystrophy	Ventricular septal defect, Abnormality of prenatal development or birth, Cryptorchidism, Cardiomy...	ORPHA:33364
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Atrial septal defect	ORPHA:2637
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Chordee, Hypospadias	OMIM:618891
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Mosaic Trisomy 20	Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Dysplastic tricuspid valve,...	ORPHA:1724
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Annular pancreas, Telangiectasia	OMIM:268400
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Tetralogy of Fallot, Patent fo...	OMIM:618748
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Ventricular septal defect, Aortic regurgitation	OMIM:609460
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	OMIM:277600
Larsen Syndrome	Atrial septal defect, Cryptorchidism, Spina bifida occulta, Ventricular septal defect	OMIM:150250
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis	OMIM:614609
Oculodentodigital Dysplasia	Umbilical hernia, Neurogenic bladder, Ventricular septal defect, Arrhythmia	ORPHA:2710
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Atrial septal defect, Cryptorchidism, Fetal pyelectasis	OMIM:619512
Fraser Syndrome	Anal stenosis, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Re...	ORPHA:2052
Weill-Marchesani Syndrome 2	Protuberant abdomen	OMIM:608328
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Atrial septal defect, Patent ...	OMIM:619268
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Tetralogy of Fallot	OMIM:600460
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Micropenis, Pelvic kidney, ...	OMIM:619503
Telangiectasia, Hereditary Hemorrhagic, Type 4	Transient ischemic attack, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformat...	OMIM:610655
Cerebellofaciodental Syndrome	Cryptorchidism, Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Aortic regurgitation	OMIM:620072
Ctcf-Related Neurodevelopmental Disorder	Phimosis, Cryptorchidism, Mitral regurgitation, Prolonged neonatal jaundice, Atrial septal defect...	ORPHA:363611
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Congestive heart failure, Functional abnormality of the bladder, Hepatitis, Renovascular hyperten...	ORPHA:391487
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormality of the anterior pit...	ORPHA:438213
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Arrhythmia	OMIM:164200
Renpenning Syndrome 1	Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria...	OMIM:309500
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Focal segmental g...	OMIM:619127
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Omodysplasia 1	Atrial septal defect, Umbilical hernia, Ventricular septal defect, Cryptorchidism	OMIM:258315
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Co...	ORPHA:444077
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,...	OMIM:619522
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g...	ORPHA:3474
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Vesicoureteral reflux	OMIM:619869
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Epispadias, Cryptorchidism, Unilateral renal ...	OMIM:615948
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypospadias, Cryptorchidism, Horseshoe kidney, Total anomalous pulmonary venous return, Atrial se...	OMIM:609945
Phace Association	Ventricular septal defect, Lingual thyroid	OMIM:606519
Apert Syndrome	Cryptorchidism, Overriding aorta, Ventricular septal defect, Hydronephrosis	OMIM:101200
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Clapo Syndrome	Varicose veins, Venous malformation	ORPHA:168984
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation	OMIM:271640
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Cryptorchidism, Spina bifida...	OMIM:135900
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia	ORPHA:1934
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect	ORPHA:522077
Bartsocas-Papas Syndrome 1	Decreased fetal movement, Ectopic kidney, Bilateral cryptorchidism, Micropenis, Patent foramen ovale	OMIM:263650
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Nuchal cord, Bicuspid aortic valve, Ventricular septal defect, Palpebral ed...	OMIM:619475
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Varicose veins, Vascular dilatation, Aortic dissection	OMIM:618343
Microphthalmia, Syndromic 3	Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Micropenis	OMIM:206900
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Thoracic aortic aneurysm, Eosinophilic infiltration of the esophagus,...	OMIM:613795
Acrofacial Dysostosis 1, Nager Type	Unilateral renal agenesis, Tetralogy of Fallot, Ventricular septal defect, Premature birth	OMIM:154400
Frontometaphyseal Dysplasia 2	Neurogenic bladder, Bicuspid aortic valve, Cryptorchidism, Pulmonic stenosis, Patent foramen ovale	OMIM:617137
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto...	OMIM:607872
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypospadias, Supernumerary nipple, Cryptorchidism, Chordee, Patent foramen ovale	ORPHA:477993
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Transient ischemic attack, Bilateral renal dysplasia, Unilateral renal agenes...	ORPHA:500150
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ...	OMIM:301043
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased fetal movement, Ventricular septal defect, Hypospadias, Cryptorchidis...	OMIM:194190
Cerebrotendinous Xanthomatosis	Cholelithiasis, Prolonged neonatal jaundice	ORPHA:909
Proteasome-Associated Autoinflammatory Syndrome 1	Chronic constipation, Protuberant abdomen	OMIM:256040
Atelosteogenesis Type Iii	Polyhydramnios	ORPHA:56305
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v...	OMIM:612474
Kabuki Syndrome 1	Crossed fused renal ectopia, Ventricular septal defect, Cryptorchidism, Micropenis, Atrial septal...	OMIM:147920
Vascular Ehlers-Danlos Syndrome	Peripheral arteriovenous fistula, Short stature, Hypospadias, Arterial dissection, Transient isch...	ORPHA:286
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Ventricular septal defect, Cerebral hemorrhage, Proteinuria	OMIM:616682
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Cleft pal...	OMIM:164210
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis	OMIM:601321
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Stillbirth, Atrial septal defect, Umbilical hernia, Hy...	OMIM:304120
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve, Chalazion	OMIM:613355
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Ebstein anomaly of the tri...	ORPHA:506358
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse	OMIM:609192
Meige Disease	Varicose veins	ORPHA:90186
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Anterior pituitary hypoplasia, Hypoplasti...	OMIM:181450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect, Supernumerary nipple	ORPHA:1071
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial septal defect, Umb...	OMIM:610168
Ehlers-Danlos Syndrome, Vascular Type	Short stature, Cryptorchidism, Descending aortic dissection, Cystocele, Varicose veins, Dilatatio...	OMIM:130050
Hypermobile Ehlers-Danlos Syndrome	Malabsorption, Venous insufficiency, Cystocele, Ascending tubular aorta aneurysm, Arterial dissec...	ORPHA:285
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Chronic kidney disease	ORPHA:642
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Ventricular septal defect, Unilateral renal agenesis	ORPHA:141099
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Umbilical hernia, Ventricular septal defect, Hydronephrosis	OMIM:620330
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Ventricular septal defect	ORPHA:434179
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Pineal cyst	ORPHA:513456
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Norrie Disease	Venous insufficiency, Cryptorchidism, Delayed puberty	ORPHA:649

Histopathology

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

There is no histopathology data for Pkd2

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 Pkd2.

No publications found that use IMPC mice or data for Pkd2.

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MGI Allele	Allele Type	Produced
Pkd2^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pkd2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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