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Gene: Plvap MGI:1890497

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

plasmalemma vesicle associated protein

Synonyms:

PV-1, MECA32

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 Plvap 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 Plvap (1 diseases)
Human diseases predicted to be associated with Plvap (1523 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Diarrhea 10, Protein-Losing Enteropathy Type		Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis...	OMIM:618183

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, Microvesicular hepatic st...	ORPHA:275761
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Edema, Facial edema, Hyperlipidemia, Obesity, Pedal ede...	ORPHA:86816
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Familial Chylomicronemia Syndrome	Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Pulmon...	ORPHA:444490
Analbuminemia	Lipodystrophy, Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol c...	OMIM:616000
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Eruptive xanthomas, Jaundice, Pancreatitis, Episodic abdominal pain...	OMIM:238600
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo...	OMIM:615863
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia	ORPHA:46532
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Eruptive xanthomas, Increased circulating chylo...	OMIM:207750
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Edema, Abdominal pain, Malabsorption, Pulmonary embolism, D...	OMIM:226300
Dysbetalipoproteinemia	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce...	ORPHA:412
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Secondary Intestinal Lymphangiectasia	Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrict...	ORPHA:90363
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Pe...	ORPHA:90362
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Short stature, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Growth d...	OMIM:232200
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly...	ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool...	OMIM:619868
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrop...	ORPHA:163596
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, H...	OMIM:232700
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Short stature, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Panc...	OMIM:232220
Nephrotic Syndrome, Type 2	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:600995
Chylomicron Retention Disease	Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy...	OMIM:246700
Enterokinase Deficiency	Diarrhea, Failure to thrive, Hypoproteinemia, Hypoproteinemic edema	OMIM:226200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Polyhydramnios, Lymphedema, Abdominal distention, Splenomegaly, Cr...	OMIM:235255
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Abdominal pai...	ORPHA:567548
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Polyhydramnios, Postnatal growth retardation, Abdominal distention...	ORPHA:1655
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, H...	OMIM:267700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr...	ORPHA:79259
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, G...	ORPHA:100025
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Edema, Feeding difficulties, Nephrotic syndrome, Hypoalbuminemia	OMIM:614652
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Refractory Celiac Disease	Villous atrophy, Abdominal pain, Malabsorption, Hypomagnesemia, Chronic diarrhea, Malnutrition, W...	ORPHA:398063
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Proteinuria, Short stature, Abdominal distention, Hyperlipidemia, Increased hepatic...	ORPHA:369
Coronary Artery Disease, Autosomal Dominant, 1	Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia, Premature coronary artery ath...	OMIM:608320
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Hypoplasia of penis, Hypospadias, Short stature, Edema, Malabsorption, A...	ORPHA:2315
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatin...	OMIM:608104
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff...	ORPHA:2924
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Cholesterol-Ester Transfer Protein Deficiency	Precocious atherosclerosis, Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol conce...	ORPHA:79506
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2070
Sitosterolemia 1	Hyperapobetalipoproteinemia, Carotid artery stenosis, Tuberous xanthoma, Abdominal pain, Elevated...	OMIM:210250
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S...	ORPHA:90064
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Stomatitis, Spider hemangioma, Chronic pancreatit...	OMIM:232240
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Abdominal distention, Renal cyst, Ascites, Increased total bilirubin	OMIM:174050
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy...	ORPHA:49827
Sitosterolemia 2	Hypercholesterolemia, Tendon xanthomatosis, Elevated circulating sitosterol concentration, Premat...	OMIM:618666
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Vomiting, Hepatic fibrosis, Fail...	OMIM:614480
Dengue Fever	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, A...	ORPHA:99828
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Xanthomatosis, Atheroscler...	ORPHA:425
Isolated Biliary Atresia	Hepatomegaly, Hypopituitarism, Small for gestational age, Dark yellow urine, Conjugated hyperbili...	ORPHA:30391
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Increased body weight, Ascites, Incr...	ORPHA:890
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Fa...	ORPHA:172
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Nephrotic Syndrome, Type 9	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:615573
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Abnormal large int...	ORPHA:2198
Hypercholesterolemia, Familial, 3	Xanthelasma, Tendon xanthomatosis, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Tuberous xanthoma, Tendon xanthomatosis, Diarrhea, Xanthe...	OMIM:213700
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Lymphangiectasia, Intestinal	Edema, Malabsorption, Pedal edema, Intestinal lymphangiectasia, Neonatal hypoproteinemia	OMIM:152800
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather...	OMIM:144010
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Short stature, Elevated circulating C-reactive protein concentration, Diffuse al...	OMIM:616050
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Recurrent respiratory infections, Foam cells with lamell...	OMIM:607616
Infantile Sialic Acid Storage Disease	Hepatomegaly, Epicanthus, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure, ...	OMIM:269920
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Short stature, Feeding difficulties in infancy, Abnormal pulmonary intersti...	OMIM:619013
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr...	ORPHA:295
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Villous atrophy, Edema, Diarrhea, Renal cyst, Proximal tubulopat...	OMIM:602579
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Generalized edema, Hypertriglyceridemia, Edema, Increased circulating...	OMIM:603553
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto...	OMIM:615631
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diarrhea, Jaundice, Esopha...	ORPHA:75234
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,...	OMIM:277460
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Secondary Short Bowel Syndrome	Villous atrophy, Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Vomiting, ...	ORPHA:95427
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis...	OMIM:618183
Diarrhea 13	Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, Hepatic steatosis	OMIM:620357
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Abdominal pain, Splenomegaly, C...	OMIM:615895
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Pericardial effusion, Hyperammonemia, Feeding difficulties, Ascites, I...	OMIM:614702
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra...	OMIM:610717
Galloway-Mowat Syndrome 6	Epicanthus, Proteinuria, Short stature, Decreased response to growth hormone stimulation test, Gr...	OMIM:618347
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypoalbuminemia, Minimal change glomerulone...	ORPHA:567546
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Portal hypertension, Diarrhea, Hypoalbuminemia,...	ORPHA:79319
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Malabsorption, Hypoproteinemia, Lymphedema	ORPHA:1116
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Xanthelasma, Tendon xanthomatosis, Coronary artery ather...	OMIM:143890
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Decre...	OMIM:616829
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Aplasia cutis congenita over the scalp vertex, Intestinal lymphangiectasia, Hypoproteinemia, Gene...	OMIM:207731
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe...	OMIM:144300
Xanthomatosis, Susceptibility To	Hypercholesterolemia, Xanthomatosis	OMIM:602247
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular scler...	OMIM:619155
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Fibronectin Glomerulopathy	Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Nephrotic syndrome, Hypertens...	ORPHA:84090
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Feeding difficulties, Macroglossia, Abnormalit...	ORPHA:79320
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Erdheim-Chester Disease	Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Retroperitoneal fibrosis, Cong...	ORPHA:35687
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Hyperlipoproteinemia, Type V	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ...	OMIM:144650
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Growth delay, Long eyelashes, Hypocalcemia, Failure to thrive	ORPHA:163693
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Pancreatitis, Tuberous xanthoma	OMIM:246650
Intestinal Dysmotility Syndrome	Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit...	OMIM:620045
Hereditary Angioedema Type 1	Tongue edema, Pharyngeal edema, Intestinal edema, Abdominal pain, Edema of the dorsum of hands, F...	ORPHA:100050
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive heart fa...	ORPHA:367
Glycosylphosphatidylinositol Biosynthesis Defect 17	Growth delay, Hypertriglyceridemia, High palate	OMIM:618010
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Edema, Increased circulating ferritin concentration, Splenome...	OMIM:603552
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hepatic steatosis, Hyper...	ORPHA:247598
Wolman Disease	Nausea and vomiting, Hepatomegaly, Cachexia, Bone-marrow foam cells, Abdominal distention, Spleno...	ORPHA:75233
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest...	OMIM:603813
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Alg8-Cdg	Hyponatremia, Abnormality of the gastrointestinal tract, Abnormality of subcutaneous fat tissue, ...	ORPHA:79325
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Obesity, Hypertension, Childhood-onset truncal ob...	ORPHA:71529
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Vomiting,...	OMIM:278000
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Chronic diarrhea, Dilated ...	OMIM:618805
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Subcutaneous nodule, Bronchiectasis, Decreased ci...	OMIM:241600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Small for gestational age, Nonimmune hydrops fetalis, Hematuria, Hypertension, ...	OMIM:617021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Short stature	ORPHA:366
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Abdominal pain, Minimal change glom...	ORPHA:656
X-Linked Agammaglobulinemia	Short stature, Malabsorption, Abnormal lung morphology, Chronic diarrhea, Recurrent pneumonia, Hy...	ORPHA:47
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Angioedema, Hereditary, 3	Pharyngeal edema, Intestinal edema, Facial edema, Angioedema, Episodic abdominal pain, Vomiting	OMIM:610618
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr...	OMIM:615710
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Postnatal...	OMIM:606407
Hypertriglyceridemia 1	Hypertriglyceridemia, Precocious atherosclerosis, Increased VLDL cholesterol concentration, Hypop...	OMIM:145750
Ppoma	Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten...	ORPHA:97278
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Edema, Feeding difficulties in infancy, Flexion contracture, Renal cyst, Hypoalb...	OMIM:212065
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Global systolic dysfunction, Hepatomegaly, Abnorma...	ORPHA:57777
Temple Syndrome	Decreased testicular size, Hypertriglyceridemia, Small for gestational age, Short stature, Overwe...	OMIM:616222
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve...	ORPHA:100085
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Flexion contracture, Hypoalbuminemia, Gastroesophageal reflux, Dilated cardiomyopathy, Decreased ...	ORPHA:89842
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Vomiti...	OMIM:619991
Apolipoprotein C-Iii Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Decreased LDL cholesterol concentra...	OMIM:614028
Al Amyloidosis	Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver, Hypoalbumine...	ORPHA:85443
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Edema, Cryptorchidism, Stage 5 ch...	OMIM:617575
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity	ORPHA:88643
Pseudomyxoma Peritonei	Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Weig...	ORPHA:26790
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Constipation	OMIM:301033
Grfoma	Poor appetite, Anorexia, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Hepa...	ORPHA:97261
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Cachexia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomat...	OMIM:175500
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca...	ORPHA:848
Alg1-Cdg	Abnormality of the gastrointestinal tract, Renal insufficiency, Chronic diarrhea, Nephrotic syndr...	ORPHA:79327
Diamond-Blackfan Anemia 16	Atrial septal defect, Anemia, Pulmonic stenosis	OMIM:617408
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferri...	OMIM:300635
Hemochromatosis, Type 1	Hepatomegaly, Abdominal pain, Increased circulating ferritin concentration, Splenomegaly, Congest...	OMIM:235200
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Ascites	ORPHA:2123
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Short stature, Jaundice, ...	ORPHA:1667
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Edema, Hypoalbuminemia, Hypocalcem...	ORPHA:36234
Autoimmune Hypoparathyroidism	Abdominal symptom, Calcium nephrolithiasis, Prolonged QT interval, Ventricular arrhythmia, Autoim...	ORPHA:36913
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Angioedema, Hereditary, 1	Pharyngeal edema, Intestinal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,...	OMIM:106100
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Telangiectasia, At...	ORPHA:101028
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp...	OMIM:251880
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain	OMIM:118830
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hepatic steatosis, Aplasia/Hypoplasia...	ORPHA:2348
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Flexion contracture, Hydrops fetalis,...	ORPHA:87876
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper...	OMIM:613101
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Somatostatinoma	Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten...	ORPHA:97283
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Lung abscess, Liver abscess, Abdominal pain, Congestive heart failure, Ga...	ORPHA:67
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Aicardi-Goutieres Syndrome 9	Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hyp...	OMIM:619487
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hyperammonemia, Growth delay, Chronic constipation, Hypercholesterolemia, Increase...	OMIM:620211
Glycogen Storage Disease Iv	Edema, Polyhydramnios, Portal hypertension, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly...	OMIM:232500
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Postnatal growth retardation, Intrahepa...	OMIM:617093
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Malnutriti...	ORPHA:35710
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ...	OMIM:266200
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Portal vein thrombosi...	ORPHA:64743
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
Oculoskeletodental Syndrome	Hepatomegaly, Epicanthus, Small for gestational age, Hypercalcemia, Short stature, Splenomegaly, ...	OMIM:618440
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hepatic steatosis, Aplasia/Hypoplasia...	ORPHA:79083
Vipoma	Poor appetite, Anorexia, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, H...	ORPHA:97282
Diarrhea 8, Secretory Sodium, Congenital	Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El...	OMIM:616868
Chylomicron Retention Disease	Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Abdominal diste...	ORPHA:71
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Short ...	OMIM:257200
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Hypertension, Hepatic steatosis	OMIM:613877
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Jaundice, Flexion contracture, Skin dimple, Hypoproteinemia	OMIM:608093
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Congestive heart failure,...	ORPHA:528
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Absence of subcutaneous fat, Co...	OMIM:610965
Cog4-Cdg	Fatal liver failure in infancy, Failure to thrive in infancy, Recurrent upper respiratory tract i...	ORPHA:263501
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Anasarca, Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Conjugated hyperbilirubinemia, Abdominal distention, Mic...	OMIM:618528
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Short stature, Edema, Hiatus hernia, Stage ...	OMIM:617729
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Obesity, Feeding difficulties, High palate, Hypercholesterolemia, I...	ORPHA:254531
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ...	ORPHA:53035
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Failure to thrive, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated h...	OMIM:617156
Pancreatic Agenesis 1	Reduced C-peptide level, Oligohydramnios, Pancreatic aplasia, Pancreatic hypoplasia, Intrauterine...	OMIM:260370
Immunodeficiency 27A	Pneumonia, Anorexia, Splenomegaly, Diarrhea, Weight loss, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia, Edema	OMIM:189800
Congenital Toxoplasmosis	Macule, Hepatomegaly, Failure to thrive in infancy, Diarrhea, Jaundice, Intrauterine growth retar...	ORPHA:858
Adiposis Dolorosa	Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas	OMIM:103200
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Short stature, Intestinal malrotation, Submucous cleft hard pala...	ORPHA:3426
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Congenital Disorder Of Glycosylation, Type Ig	Epicanthus, Hypospadias, Small for gestational age, Edema, Polyhydramnios, Rhizomelia, Cryptorchi...	OMIM:607143
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Postnatal growth retardation, Pyloric stenosis, Cryptor...	ORPHA:96184
Celiac Disease, Susceptibility To, 1	Short stature, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Postnatal growth r...	OMIM:212750
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a...	ORPHA:1959
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Edema, Abdominal distention, Diarrhea, Peritoniti...	ORPHA:391673
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia, Malabsorption	ORPHA:1954
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea...	ORPHA:173
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Epicanthus, Hypospadias, Intestinal malrotation, ...	ORPHA:79324
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
Liver Failure, Infantile, Transient	Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Feedi...	OMIM:613070
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Glucagonoma	Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten...	ORPHA:97280
Schimke Immuno-Osseous Dysplasia	Nephropathy, Nephrotic range proteinuria, Short stature, Hypermelanotic macule, Minimal change gl...	ORPHA:1830
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a...	ORPHA:363400
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ...	ORPHA:699
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormal eyelash morphology, Pyloric st...	ORPHA:381
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Abdominal distention, Secretory diarrhea, Dehydration, Elevated sto...	OMIM:214700
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse...	OMIM:235510
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Splenomegaly, Abnormality of the ureter, Aplasi...	ORPHA:1046
Rajab Interstitial Lung Disease With Brain Calcifications 1	Gastroesophageal reflux, Hypoalbuminemia, Hypocalcemia, Vomiting, High palate, Emphysema, Hepatic...	OMIM:613658
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas...	OMIM:613662
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,...	ORPHA:280365
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Vomiting, Hepatic fibr...	ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 5	Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper...	OMIM:617049
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Bifid u...	OMIM:222470
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Ami...	OMIM:277900
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Nephropath...	OMIM:256150
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Diarrhea, Myocarditis, Hypovolemia, ...	ORPHA:31824
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Hypocalcemia, Intrauterine growth retardation, Downslanted palpe...	ORPHA:1438
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H...	ORPHA:90308
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg...	ORPHA:90041
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa...	ORPHA:1414
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An...	OMIM:223350
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated cir...	ORPHA:370348
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Hyperalphalipoproteinemia 1	Increased HDL cholesterol concentration	OMIM:143470
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Ar...	OMIM:603471
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Omenn Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Hypoplasia of the thymus, Failure to thrive, Hyp...	OMIM:603554
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Pallor,...	ORPHA:98870
Leishmaniasis	Hepatomegaly, Anorexia, Splenomegaly, Skin ulcer, Weight loss, Hypoalbuminemia, Skin plaque, Papule	ORPHA:507
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Telecanthus, Short stature, Lymphedema, Hypocalcemia, Ne...	ORPHA:1563
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hypertension, Hepatic steatosis, Increased C-p...	OMIM:615238
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, ...	ORPHA:3405
Congenital Enterovirus Infection	Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Hyperammonemia...	ORPHA:292
Chylous Ascites	Lymphedema, Subcutaneous nodule, Abnormal intestine morphology, Ascites, Pancreatitis	ORPHA:1160
Mulibrey Nanism	Hepatomegaly, Short stature, Congestive heart failure, Microglossia, Hydrops fetalis, Growth dela...	OMIM:253250
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti...	ORPHA:1201
Chédiak-Higashi Syndrome	Hyponatremia, Recurrent respiratory infections, Hypertriglyceridemia, Epistaxis, Edema, Pericardi...	ORPHA:167
Legius Syndrome	Short stature, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Nephrolithiasis, Des...	ORPHA:137605
Combined Oxidative Phosphorylation Deficiency 5	Edema, Hyperammonemia, Growth delay, Hypertrophic cardiomyopathy, Ascites	OMIM:611719
Hypocalcemia, Autosomal Dominant 1	Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Trehalase Deficiency	Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Increased LDL cholesterol concentration	OMIM:618808
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Intestinal obstruction, Hypoplasia of penis...	ORPHA:2323
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Sho...	OMIM:256550
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Juvenile Nephropathic Cystinosis	Poor appetite, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-mo...	ORPHA:411634
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Hepatomegaly, Elevated circulating C-reactive protein concentra...	OMIM:308240
Oculoskeletodental Syndrome	Epicanthus, Short stature, Hypercalcemia, Nephrocalcinosis, Hypocalcemia, Enamel hypoplasia	ORPHA:557003
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Lipodystrophy, Elevated c...	OMIM:613327
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Vitamin D-Dependent Rickets, Type 3	Growth delay, Hypocalcemia, Hypophosphatemia	OMIM:619073
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Hepatocellular carcinoma, Conjugated hyperbilirubin...	ORPHA:186
Fanconi-Bickel Syndrome	Poor appetite, Hepatomegaly, Ketonuria, Hypouricemia, Renal tubular dysfunction, Hypokalemia, Hyp...	OMIM:227810
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal i...	OMIM:602347
Gracile Bone Dysplasia	Failure to thrive, Short stature, Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Ascites...	OMIM:602361
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Growth delay, Hypocalcemia, Hypocalcemic tetany, Intrauterine growt...	ORPHA:93324
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypo...	ORPHA:37042
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Proteinuria, Hepatomegaly, Recurrent b...	OMIM:617303
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre...	OMIM:619573
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:98853
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Feeding difficulties, Increased level of galactitol in p...	ORPHA:79237
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Pseudohypoparathyroidism Type 2	Calcinosis, Abdominal symptom, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia...	ORPHA:94090
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Hepatocellular carcinom...	ORPHA:2088
Rhabdoid Tumor	Nausea and vomiting, Hypercalcemia, Poor appetite, Abdominal pain, Subcutaneous nodule, Weight lo...	ORPHA:69077
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Purple urine, Increased fecal coproporphyrin 3, Ankle flexion contracture, Abdomina...	ORPHA:100924
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, In...	OMIM:215600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Growth delay, Hypocalcemia, Protuberant abdomen, Hypophosphatemia, Sec...	OMIM:264700
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombocytopenia, Leu...	ORPHA:824
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Portal hypertension, Hiatus ...	OMIM:610199
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach...	ORPHA:83469
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158057
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:98855
Infection-Related Hemolytic Uremic Syndrome	Anuria, Edema, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infa...	ORPHA:544482
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Tyrosinemia, Type I	Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Short stature, Abnormal dental enamel morphology, Hypocalcemia, Nephropathy, ...	ORPHA:2238
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin...	ORPHA:98863
Congenital Disorder Of Glycosylation, Type Iir	Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decreased liver function, Ascites, H...	OMIM:301045
Pseudopseudohypoparathyroidism	Osteoma cutis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Intrauterine growth retar...	ORPHA:79445
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem...	ORPHA:86839
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Edema, Hepatic failure	OMIM:177000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Telecanthus, Hypospadias, Small for gestational age, Polyhydramnios, Flexion contracture, Hydrops...	OMIM:616897
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Exocrine pancreatic insufficiency...	ORPHA:552
Pseudohypoparathyroidism, Type Ic	Short stature, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cy...	OMIM:612462
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Hepatomegaly, Proteinuria, Failure to thrive in infancy, Spleno...	ORPHA:834
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra...	ORPHA:79240
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Squalene Synthase Deficiency	Epicanthus, Hypospadias, Failure to thrive in infancy, Increased circulating farnesol concentrati...	OMIM:618156
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Deh...	ORPHA:94093
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon...	OMIM:603233
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Recurrent lower respirat...	OMIM:620282
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:615381
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	ORPHA:540
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pa...	ORPHA:3386
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Papular Xanthoma	Hyperlipidemia, Skin plaque, Eruptive xanthomas	ORPHA:158008
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Synophrys, Velopharyngeal insufficiency, Increased body weig...	OMIM:182290
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial h...	ORPHA:3226
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid...	ORPHA:2137
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva...	OMIM:618620
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Erythema, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sh...	OMIM:242150
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Facial edema, Increased circulating ferritin concentration, Splenomegaly, P...	OMIM:618398
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Abdominal pain, Pericardial effusion, Abdominal distention, Pleur...	ORPHA:48686
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Failure to thrive, Feeding difficulties in infancy, Facial edema, Pituitary h...	ORPHA:90674
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Protuberant...	ORPHA:289157
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Pedal edema, Weight loss, Ascites	ORPHA:168811
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Short stature, Edema, Minimal change glomerulonephritis...	OMIM:618348
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Feeding difficulties, Nephrocalcinosis,...	OMIM:617913
Achondrogenesis, Type Ib	Inguinal hernia, Polyhydramnios, Edema, Abdominal distention, Hydrops fetalis, Umbilical hernia, ...	OMIM:600972
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Pseudohypoparathyroidism Type 1B	Calcinosis, Abdominal symptom, Prolonged QT interval, Short stature, Decreased response to growth...	ORPHA:94089
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Hypoalbu...	OMIM:226990
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Abnor...	ORPHA:90003
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferr...	OMIM:619313
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Small for gestational age, Nonimmune hydrops fetalis, ...	ORPHA:1041
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Diarrh...	ORPHA:79076
Hepatic Lipase Deficiency	Hypertriglyceridemia, Angina pectoris, Eruptive xanthomas, Increased HDL cholesterol concentratio...	OMIM:614025
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con...	ORPHA:90051
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Short stature, Nephrolithiasis, Abnormal adipose tissue morphology, Hypocalc...	ORPHA:93160
Volvulus Of Midgut	Telecanthus, Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Const...	OMIM:193250
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Failure to thrive, Hepatomegaly, Hepatic steatosis, Cong...	ORPHA:14
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hypophosphatasia, Infantile	Recurrent respiratory infections, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hy...	OMIM:241500
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor	ORPHA:90037
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Hypocholesterolemia, Ptosis	OMIM:610539
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ...	OMIM:616834
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Proteinuria, Abdominal pain, Pericardial ...	ORPHA:36412
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gall...	ORPHA:171
Isotretinoin-Like Syndrome	Inguinal hernia, Postnatal growth retardation, Abnormal aortic arch morphology, Cleft palate, Fee...	ORPHA:2306
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Angina pectoris, Eruptive xanthomas, Increased HDL cholesterol concentratio...	ORPHA:140905
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ...	ORPHA:1979
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi...	OMIM:241410
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Epicanthus, Renal insufficiency, Proteinuria, Small for gestational ...	OMIM:251300
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ...	ORPHA:103907
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi...	OMIM:619433
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Intestinal perforation, Abnormal lung morphology, Bloody diarrhea, Intracranial hemorrhage, Abnor...	ORPHA:464321
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Hypertonic dehyd...	OMIM:606824
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Achondrogenesis Type 1A	Severe short stature, Femoral hernia, Polyhydramnios, Abdominal distention, Hydrops fetalis, Apla...	ORPHA:93299
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Anemic pallor, Anemia, Edema	ORPHA:329971
Ovarian Hyperstimulation Syndrome	Ascites, Nausea, Abdominal pain	OMIM:608115
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Lymphatic Malformation 6	Epicanthus, Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial ed...	OMIM:616843
Hennekam Syndrome	Recurrent respiratory infections, Epicanthus, Mild postnatal growth retardation, Camptodactyly of...	ORPHA:2136
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin...	OMIM:616733
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Depen...	OMIM:619445
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Kosaki Overgrowth Syndrome	Xanthelasma, Downslanted palpebral fissures, Thin skin, Ptosis	OMIM:616592
Thyroid Hemiagenesis	Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Umbilical hernia	ORPHA:95719
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Gastritis, Atrial fibrillation, C...	ORPHA:31826
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Edema, Pericardial effusion, Hepatosplenomegaly, Polycystic kidn...	OMIM:608776
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Brooke-Spiegler Syndrome	Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Abnormality of the subling...	ORPHA:79493
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Elevated circulating creatine kinase concentration, Po...	ORPHA:158684
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect	OMIM:613759
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Failure to thrive, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegal...	OMIM:607765
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund...	ORPHA:75565
Laron Syndrome	Hypoplasia of penis, Severe short stature, Truncal obesity, Delayed puberty, Hypercholesterolemia	ORPHA:633
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe...	ORPHA:846
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema, Abs...	ORPHA:69735
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu...	OMIM:300908
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i...	ORPHA:746
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Pleural effu...	ORPHA:314473
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Feeding difficulties in infanc...	ORPHA:819
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Short stature, Cryptorchidism, Velopharyngeal insufficiency,...	OMIM:192430
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat...	OMIM:619662
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Hypoalbuminemia, Vomiting, Gast...	OMIM:270400
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydr...	OMIM:601678
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor	OMIM:611590
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Potocki-Lupski Syndrome	Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Feeding difficulties in infa...	OMIM:610883
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Timothy Syndrome	Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Hy...	OMIM:601005
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Diamond-Blackfan Anemia 9	Anemia, Webbed neck	OMIM:613308
Pseudohypoparathyroidism Type 1C	Calcinosis, Abdominal symptom, Prolonged QT interval, Osteoma cutis, Short stature, Decreased res...	ORPHA:79444
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Polycystic ovaries, Increased intraabdominal f...	ORPHA:79085
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
H Syndrome	Decreased testicular size, Abnormal eyebrow morphology, Hypertriglyceridemia, Lipodystrophy, Shor...	ORPHA:168569
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Renal ins...	ORPHA:160
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556030
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Subcutaneous nodule, Tracheoesop...	ORPHA:2591
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular syst...	ORPHA:79086
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hepatomegaly,...	OMIM:203800
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Retinal hemorrha...	OMIM:609049
Non-Functioning Paraganglioma	Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Con...	ORPHA:94080
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Iron deficiency anem...	ORPHA:99931
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Generalized edema, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycy...	ORPHA:64739
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Abdominal pain, Abnormality of the pancreas, Jaundice, Abnormal pineal...	ORPHA:69665
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Vomiting, Decreased adipose tissue around neck, Pulmonary arteri...	OMIM:606721
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Conjunctivitis, Hypoalbuminemia, Hernia, Tricuspid regurgitation, Hepatosple...	ORPHA:505248
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ...	OMIM:606812
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He...	OMIM:248370
Farber Disease	Failure to thrive, CNS foam cells, Short stature, Nodular pattern on pulmonary HRCT, Intrahepatic...	ORPHA:333
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ...	ORPHA:131
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Edema, A...	ORPHA:93552
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:254900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Grow...	OMIM:615508
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophils, Periorbita...	ORPHA:33226
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal eyelid morphology, Feeding difficulties in infancy, Anorectal anomaly, A...	ORPHA:567
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Hors...	ORPHA:2470
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatic steatosis, Hypertriglyceridemia, Obesity, Cholestasis, Hepat...	ORPHA:209902
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Short stature, Feeding difficulties in infancy, Skin...	ORPHA:436
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism	OMIM:614514
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil...	OMIM:613027
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Congestive heart failure, In...	ORPHA:363618
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp...	OMIM:211000
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Anorexia, Abdominal pain, Abd...	ORPHA:330015
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede...	OMIM:265300
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Short stature, Highly arched eyebrow, Overweight, Dilated cardiomyopathy, R...	ORPHA:401923
Dextrocardia	Abnormal EKG, Intestinal malrotation, Abnormality of the spleen, Abnormal lung lobation, Abnormal...	ORPHA:1666
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia	OMIM:613839
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Periorbital edema, Splenomegaly, Flexion contr...	OMIM:617591
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Lymphedema, Hyperlipidemia, Splenomeg...	OMIM:214900
Classic Galactosemia	Hepatomegaly, Cryptorchidism, Diarrhea, Jaundice, Feeding difficulties, Vomiting, Hepatic failure...	ORPHA:79239
Athyreosis	Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipation	ORPHA:95713
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbumine...	OMIM:619534
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios	OMIM:615731
Noonan Syndrome 12	Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Su...	OMIM:618624
Donohue Syndrome	Hypermelanotic macule, Postnatal growth retardation, Abdominal distention, Adipose tissue loss, L...	OMIM:246200
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate...	ORPHA:98826
Low Phospholipid-Associated Cholelithiasis	Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Bilia...	ORPHA:69663
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Portal hypertension, Diarrh...	ORPHA:98850
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Combined Oxidative Phosphorylation Deficiency 37	Feeding difficulties, 3-Methylglutaconic aciduria, Hypoalbuminemia, Decreased liver function, Mac...	OMIM:618329
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia	OMIM:616176
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentration, Abdominal dis...	OMIM:619423
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Hypertriglyceridemia, Abdominal pain, Increased circulating f...	OMIM:619802
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Small for gestational age, Intestinal malrotation, Congenital diaphragmatic...	ORPHA:2255
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Growth delay, Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Elevated circulating C-reactive protein concentration, Bronchitis, Pos...	OMIM:619381
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, ...	OMIM:615980
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Thrombocytopenia 5	Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ...	OMIM:616216
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Birth length less than 3rd percentile, Hypocalcemia, Hypomagnesemia,...	OMIM:244460
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Vomi...	ORPHA:90065
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa...	ORPHA:300298
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Pedal edema, Nephrocalcinosis, Gastrointestinal inf...	ORPHA:342
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney...	ORPHA:469
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Hepatomegaly, Hypopituitarism, Short stature, Pneumoni...	ORPHA:811
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Macroglossia, C...	ORPHA:226313
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Intraventricular h...	OMIM:619055
Optic Atrophy 1	Pallor	OMIM:165500
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma...	OMIM:601346
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Feeding difficulties, Abnormal conjunctiva morphology, Hypoalbuminemia, Pro...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Feeding difficulties, Abnormal conjunctiva morphology, Hypoalbuminemia, Pro...	ORPHA:529799
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sho...	ORPHA:96180
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Aort...	ORPHA:97214
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Hypospadias, Short stature, Short uvula, Renal hypoplasia, Renal cyst, Hydrops fetali...	OMIM:614091
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Dehydration, Bloody di...	ORPHA:99826
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal...	OMIM:300048
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Micropenis...	OMIM:243800
Pseudohypoparathyroidism Type 1A	Calcinosis, Abdominal symptom, Prolonged QT interval, Osteoma cutis, Short stature, Decreased res...	ORPHA:79443
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Polyhydramnios, Sparse eyebrow, Feeding difficulties in infancy, Hydrocele testis, ...	OMIM:618810
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red...	OMIM:194380
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per...	OMIM:612561
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Anorexia, Abdominal pain, Pericardial effusion, Splenomegaly, Hyperspl...	ORPHA:77259
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Bilateral ptosis, Hypovolemia, Dehydration, Weight loss, Renal tubu...	ORPHA:99885
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat...	ORPHA:90033
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Acrocephalopolydactylous Dysplasia	Omphalocele, Hypoplastic colon, Epicanthus, Hepatomegaly, Pancreatic fibrosis, Upslanted palpebra...	OMIM:200995
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Postnatal grow...	OMIM:614732
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Intermediate Osteopetrosis	Hypocalcemia, Hepatosplenomegaly	ORPHA:210110
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi...	ORPHA:779
Glycogen Storage Disease Iii	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hyperlipidemia, ...	OMIM:232400
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Familial Isolated Hyperparathyroidism	Abdominal symptom, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroi...	ORPHA:99879
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste...	OMIM:607941
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Epicanthus, Inguinal hernia, Intestinal malrotation, Edema, Polyhydram...	OMIM:269860
Albers-Schönberg Osteopetrosis	Short stature, Hypocalcemia	ORPHA:53
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe...	OMIM:615812
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Anorexia, Renal salt wasting, Decreased urinary potassium, ...	ORPHA:95409
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:180229
Familial Atrial Myxoma	Tricuspid regurgitation, Congestive heart failure, Jaundice, Heart murmur, Pedal edema, Cholestas...	ORPHA:615
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Obesity	OMIM:617885
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vom...	OMIM:239199
Ovarian Fibrothecoma	Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Pleural effusion, Ascites, Ab...	ORPHA:314478
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Vomiting, Acral...	OMIM:256810
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Preauricular pit, Sacral dimple, Inguinal hernia, Pulmonary cyst, Large for gestational age, Prot...	OMIM:618272
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hypertension, Hyperuricemia, Obesity	ORPHA:77296
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation...	ORPHA:508
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab...	ORPHA:3099
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Formiminoglutamic Aciduria	Atrial septal defect, Anemia, Megaloblastic anemia	ORPHA:51208
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Spl...	ORPHA:3202
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Senior-Boichis Syndrome	Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chron...	ORPHA:84081
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Aplasia cutis congenita on trunk or limbs, Scarring, Feeding difficulties, Growth delay, Atrophic...	ORPHA:79396
Neutral Lipid Storage Disease With Ichthyosis	Ptosis, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular cirrhosis, Obesity, Cardi...	ORPHA:98907
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Growth delay, Hypocalcemia, Hyperb...	OMIM:259720
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Short stature, Bilateral ptosis, Cryptorchidism, Cleft palate, H...	ORPHA:163979
Immunodeficiency 22	Failure to thrive, Pericarditis, Diarrhea, Recurrent upper respiratory tract infections, Protract...	OMIM:615758
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H...	OMIM:266510
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Epicanthus, Hypertriglyceridemia, Failure to thrive i...	OMIM:619418
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Congenital Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Abnormal EKG, Edema, Protruding tongue, Respiratory tract infectio...	ORPHA:93400
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Nonimmune hydrops fetalis, Pure red cell aplas...	ORPHA:124
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Dry skin, Thrombocytopenia	OMIM:620184
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepa...	ORPHA:974
Mirizzi Syndrome	Dark urine, Abdominal colic, Tachycardia, Anorexia, Abdominal pain, Abdominal distention, Jaundic...	ORPHA:521219
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Pallor	ORPHA:90036
Late-Onset Isolated Acth Deficiency	Hyponatremia, Nausea and vomiting, Decreased circulating cortisol level, Orthostatic hypotension,...	ORPHA:199299
Acute Intermittent Porphyria	Hyponatremia, Nausea and vomiting, Renal insufficiency, Dark urine, Tachycardia, Urinary incontin...	ORPHA:79276
Parathyroid Carcinoma	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Pancreatic adenocarcinoma, Renal h...	ORPHA:143
Blue Diaper Syndrome	Hypercalcemia, Diarrhea, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Cartilage-Hair Hypoplasia	Hepatomegaly, Sacral dimple, Epicanthus, Aganglionic megacolon, Rhizomelia, Malabsorption, Sparse...	ORPHA:175
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Epicanthus, Telecanthus, Inguinal hernia, Hepatomegaly, Rhizome...	OMIM:218330
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, A...	OMIM:256040
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud...	OMIM:115197
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Pericardial effusion, Shortened PR interval, Cardiomyopathy, Bradycardia, ...	OMIM:261740
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Dehydration, Leukopenia, Anemia	ORPHA:33355
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypoplasia,...	OMIM:619503
Meckel Syndrome, Type 8	Pericardial effusion, Abdominal distention, Cleft palate, Polycystic kidney dysplasia, Enlarged k...	OMIM:613885
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Cleft palate, Hypocalcemia, Inter...	OMIM:300712
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Osteopetrosis, Autosomal Recessive 1	Splenomegaly, Hepatomegaly, Failure to thrive, Hypocalcemia	OMIM:259700
Leptospirosis	Nausea and vomiting, Hepatomegaly, Pericarditis, Anorexia, Abdominal pain, Cellular urinary casts...	ORPHA:509
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Multiple Endocrine Neoplasia Type 2	Pheochromocytoma, Ganglioneuromatosis, Elevated urinary vanillylmandelic acid, Neoplasm of the li...	ORPHA:653
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Morgagni diaphragmatic he...	OMIM:613177
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Pancreatic Agenesis 2	Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancr...	OMIM:615935
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Multiple Endocrine Neoplasia, Type I	Prolactinoma, Hypercalcemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating gr...	OMIM:131100
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Wells Syndrome	Skin vesicle, Vasculitis, Eosinophilia, Edema	ORPHA:901
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Lymphedema, Spleno...	ORPHA:584
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obe...	ORPHA:66628
Autosomal Dominant Hypocalcemia	Abdominal pain, Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hy...	ORPHA:428
Insulin-Resistance Syndrome Type B	Decreased body weight, Enlarged ovaries, Proteinuria, Abnormality of body weight, Pneumonia, Abno...	ORPHA:2298
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Hepatomegaly, Failure to thrive in infancy, Portal hypertension...	ORPHA:79124
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Sinus tachycardia, Elevated urinary no...	ORPHA:276621
Poems Syndrome	Lipodystrophy, Edema, Pericardial effusion, Weight loss, Pulmonary arterial hypertension, Pleural...	ORPHA:2905
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Foot joint contracture, Mild postnatal growth retardation, Hyperechogenic pancreas,...	ORPHA:456312
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obe...	ORPHA:179494
Seckel Syndrome 10	Skin tags, Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated hemoglobin A1...	OMIM:617253
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Dysphagia, Hepatosplenomeg...	OMIM:608013
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Peptic ulce...	OMIM:145981
Acrocephalopolydactyly	Epicanthus, Protuberant abdomen, Hepatosplenomegaly	ORPHA:221054
Carney Complex	Atypical nevi in non-sun exposed areas, Neoplasm of the stomach, Hepatocellular carcinoma, Increa...	ORPHA:1359
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Abdominal distention, Atelectasis, Chronic diarrhea, Bronc...	OMIM:620233
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co...	ORPHA:275766
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Epicanthus, Inguinal hernia, Cholelithiasis, Postnatal growth retardation, Contract...	ORPHA:83617
Hyperparathyroidism-Jaw Tumor Syndrome	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Pancreatic adenocarcinoma, Renal h...	ORPHA:99880
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Hepatomegaly, Limb joint contracture, Shoulder flexion contracture, Polyhydramni...	OMIM:620369
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556037
Neuhauser Syndrome	Epicanthus, Short stature, High palate, Dysphagia, Hypercholesterolemia, Downslanted palpebral fi...	OMIM:249310
Lymphangioleiomyomatosis	Macule, Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Ab...	ORPHA:538
Spondylocostal Dysostosis 1, Autosomal Recessive	Recurrent respiratory infections, Severe short stature, Short stature, Abdominal distention, Disp...	OMIM:277300
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Recurrent respiratory infections, Short stature, Hyperlipidemia, Xanthomatosis, Hyperuricemia	ORPHA:364
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Polyhydramni...	OMIM:155310
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Edema, Leukocytosis, Dilated cardiomyopathy, Dehydration, Leukopenia, Pallor, Hyp...	ORPHA:20
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Sacral dimple, Widened atrophic scar, Hypertriglyceridemia, Inguinal hernia, Long...	ORPHA:536532
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia	OMIM:618313
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Short stature, Camptodactyly of finger, Decreased response to growth hormone stimul...	OMIM:602782
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Proximal renal t...	ORPHA:2785
Pseudohypoparathyroidism, Type Ia	Short stature, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Low urinary cyclic AMP respo...	OMIM:103580
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Dehydration,...	ORPHA:652
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Hydrops fetali...	OMIM:557000
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Bradycardia, ...	OMIM:617397
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia, Secretory diarrhea	OMIM:614441
Vitamin D-Dependent Rickets, Type 2A	Epicanthus, Growth delay, Protuberant abdomen, Hypophosphatemia, Secondary hyperparathyroidism, E...	OMIM:277440
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Nasogastric tube feeding in infancy, Hig...	ORPHA:369837
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Parathyroid carci...	OMIM:145001
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt...	OMIM:300367
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Autosomal Erythropoietic Protoporphyria	Erythema, Edema, Microcytic anemia	ORPHA:79278
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi...	ORPHA:677
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Hyperparathyroidism 4	Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:617343
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal left ventricular function, Xanthomato...	ORPHA:391665
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Intermittent generalized e...	ORPHA:284426
Perlman Syndrome	Distal ileal atresia, Renal hamartoma, Edema, Polyhydramnios, Congenital diaphragmatic hernia, La...	OMIM:267000
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom...	ORPHA:97289
Diaphanospondylodysostosis	Epicanthus, Inguinal hernia, Increased nuchal translucency, Disproportionate short-trunk short st...	OMIM:608022
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating copper concentrati...	OMIM:300972
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Aortic regurgitation, Multicystic kidney dysplasia, Epicanthus, Short statu...	ORPHA:1052
Microtriplication 11Q24.1	Short stature, Synophrys, Hyperlipidemia, Obesity, Cleft palate, Upslanted palpebral fissure, Lon...	ORPHA:289522
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti...	ORPHA:3260
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Feeding difficulties in inf...	OMIM:239200
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Keratoconjuncti...	ORPHA:309031
Alagille Syndrome 1	Failure to thrive, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal hypoplasia, ...	OMIM:118450
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Subcutaneous nodule, Bicarbonaturia, Aminoaci...	OMIM:309000
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Dehydration, Cardiomyopathy, Leukopenia, Anemia	ORPHA:27
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona...	ORPHA:860
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Dehydration, Oligosaccharidu...	ORPHA:534
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Short stature, Obesity	ORPHA:329249
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Addison Disease	Decreased circulating cortisol level, Anorexia, Renal salt wasting, Decreased urinary potassium, ...	ORPHA:85138
Dermatitis Herpetiformis	Skin vesicle, Erythema, Edema, Microcytic anemia	ORPHA:1656
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca...	ORPHA:251004
Hemochromatosis, Type 3	Cardiomyopathy, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	ORPHA:158048
Beta-Ketothiolase Deficiency	Edema, Leukocytosis, Dehydration, Hypertension, Pallor, Hypotension, Thrombocytosis	ORPHA:134
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Dehydration, Nephrocalcinosis, Abno...	ORPHA:2290
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Opsismodysplasia	Recurrent respiratory infections, Rhizomelia, Edema, Polyhydramnios, Renal phosphate wasting, Sha...	OMIM:258480
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:269700
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-indepen...	ORPHA:405
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Omphalocele, Multicystic kidney dysplasia, Hydroureter, Abnormality of the g...	ORPHA:2241
Methanol Poisoning	Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent a...	ORPHA:31825
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Long eyelashes, Hypocalcemia	OMIM:618476
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Pallor, Neutropenia, Atrial septal defect, Patent foramen ovale	OMIM:609053
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Sinus tachycardia, Elevated urinary no...	ORPHA:29072
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Gastroesophageal reflux, Hypocalcemia, High palate, ...	OMIM:188400
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Weight loss, Ep...	ORPHA:100086
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Hepatomegaly, Sparse eyebrow, Umbilical hernia, Aortic regur...	OMIM:252500
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Lymphoproliferative Syndrome 2	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Ascites	OMIM:615122
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent respiratory infections, Hypoperistalsis, Abdominal distention, Megacystis, Nephrolithia...	OMIM:619365
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Intestinal malrotation, Polyhydramnios, Abdominal distention, Gastro...	ORPHA:436252
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Webbed neck, Pleural effusion, Mitral regurgitation, P...	OMIM:615355
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Camptodactyly of finger, Ascites, Mitral regurgitation, Camptodactyly of toe, Pleur...	ORPHA:2848
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Abnormality of the pulmon...	ORPHA:284227
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Diarrhea...	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 41	Nonimmune hydrops fetalis, Anemia, Cardiomegaly	OMIM:618838
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Polyhydramnios, Medial calcification of medium-siz...	ORPHA:51608
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Monosomy 13Q34	Hepatic steatosis, Epicanthus, Hypercalcemia, Epistaxis, Obesity, Hematochezia, Growth delay, Hor...	ORPHA:96168
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio...	OMIM:137920
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Hypercalcemia, Urinary incontinence, Feeding difficulties in infancy, Synophrys, Cong...	ORPHA:476126
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Sinus tachycardia, Elevated circulating creatine kina...	ORPHA:466650
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Inguinal hernia, Absent gallbladder, Intestinal malrotation, Congenital dia...	OMIM:600001
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,...	OMIM:218700
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Epicanthus, Severe short stature, Short stature, Heparan sulfate excretion in urine...	OMIM:253220
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,...	ORPHA:439232
Dubowitz Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, High palate, Hypocholesterolemia, Hypos...	OMIM:223370
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ...	ORPHA:276152
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Short stature, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Abnormal aortic mor...	ORPHA:1166
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Short stature, Intestinal malrotation, Sparse eyebrow, Feeding difficult...	OMIM:244450
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Perlman Syndrome	Hepatomegaly, Epicanthus, Inguinal hernia, Femoral hernia, Hypoplasia of penis, High, narrow pala...	ORPHA:2849
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Adamantinoma	Hypercalcemia	ORPHA:55881
Platyspondylic Dysplasia, Torrance Type	Polyhydramnios, Abdominal distention, Hydrops fetalis, Cleft palate, Pulmonary hypoplasia, Dispro...	ORPHA:85166
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Parathyroid hyp...	ORPHA:2237
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Pyloric stenosis, Jaundice, Horse...	ORPHA:93111
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, P...	OMIM:214800
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Anemia	OMIM:618839
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Anemia	OMIM:618835
Xp21 Deletion Syndrome	Nausea and vomiting, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Gr...	ORPHA:261476
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Urethral stricture, Polyhydramnios, Abdominal distention, Urinary bladder in...	ORPHA:79403
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Megalocornea-Intellectual Disability Syndrome	Epicanthus, Short stature, High palate, Hypercholesterolemia, Downslanted palpebral fissures	ORPHA:2479
Qazi-Markouizos Syndrome	Chronic constipation, Abdominal distention, High, narrow palate, Cryptorchidism	ORPHA:3010
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Short stature, Tricuspi...	OMIM:619127
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Severe short stature, Small for gestational age, ...	OMIM:127000
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Hypertriglyceridemia, Hyperglycerolemia, S...	OMIM:307030
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Normochromic anemi...	OMIM:618775
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Tela...	OMIM:606003
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ...	OMIM:601927
Renal Hypoplasia, Bilateral	Edema, Renal cyst, Vesicoureteral reflux, Decreased glomerular filtration rate, Hyponatremia, Sho...	ORPHA:97362
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Pericardial effusion, Anemia, Prolonged QTc interval, Thrombocytopenia	ORPHA:231111
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:607598
Tangier Disease	Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Abdominal pain, Hepat...	ORPHA:31150
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Skin vesicle, Naus...	ORPHA:99921
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Polyhydramnios, Abdominal distention, Secretory dia...	OMIM:270420
Bazex Syndrome	Scaling skin, Anemia, Edema	ORPHA:166113
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Elbow contracture, Abdominal distention, Feeding difficulties, Gastroesophageal ...	OMIM:620275
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Failure to thrive, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	ORPHA:79303
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, ...	ORPHA:2089
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia	ORPHA:2668
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Ecchymosis, ...	ORPHA:88
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr...	OMIM:613011
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol...	ORPHA:91348
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic pancreatitis, Congestive heart failure...	ORPHA:98908
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio...	ORPHA:2131
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Short stature, Splenomegaly, Micronodular cirrhosis, Flexio...	OMIM:301072
Anterior Cutaneous Nerve Entrapment Syndrome	Inguinal hernia, Anorexia, Abdominal pain, Abdominal distention, Decreased body weight, Recurrent...	ORPHA:51890
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect	OMIM:615297
Schimke Immunoosseous Dysplasia	Macule, Renal insufficiency, Proteinuria, Hypermelanotic macule, Small for gestational age, Trans...	OMIM:242900
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia	OMIM:608068
Meckel Syndrome 14	Tricuspid regurgitation, Abdominal distention, Increased nuchal translucency, Pneumothorax, Mitra...	OMIM:619879
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Hyper...	ORPHA:77293
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Atypical Werner Syndrome	Premature arteriosclerosis, Abnormality of the pulmonary artery, Hepatic steatosis, Aplasia/Hypop...	ORPHA:79474
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Reduced C-peptide level, Hypoamylasemia, High pala...	ORPHA:556955
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hypospadias, Large for gestational age, Cryptorchidism, Hypopigmented skin p...	ORPHA:457485
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Severe short stature, Hypercalcemia, Hype...	OMIM:156400
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Flexion contracture, Severe intrauterine growth retardation,...	OMIM:609069
Sarcoidosis	Heart block, Abnormal lung morphology, Subcutaneous nodule, Ventricular tachycardia, Nephrocalcin...	ORPHA:797
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis	OMIM:619462
Mucolipidosis Type Ii	Knee flexion contracture, Shallow orbits, Telangiectases of the cheeks, Short stature, Hepatosple...	ORPHA:576
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop...	ORPHA:892
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Werner Syndrome	Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Premature arteriosclerosis	OMIM:277700
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Abdominal pain	ORPHA:284400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Heart block, High, narrow palate, Red-brown u...	ORPHA:228308
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L...	OMIM:600901
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention, Severe short stature	OMIM:619345
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Sialuria	Hepatomegaly, Epicanthus, Inguinal hernia, Splenomegaly, Synophrys, Macroglossia, High palate, Hy...	OMIM:269921
Hurler Syndrome	Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Hepatomegaly, Short stat...	OMIM:607014
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Epicanthus, Hypospadias, Cryptorchidism, Synophrys, Hyperlipidemia, Obesity...	ORPHA:254346
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Colonic Atresia	Omphalocele, Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis...	ORPHA:1198
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias, Decreased testicular size	OMIM:610644
Congenital Rubella Syndrome	Ventricular septal defect, Splenomegaly, Anemia, Atrial septal defect, Thrombocytopenia	ORPHA:290
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Hypospadias, Short stature, Absent...	OMIM:264090
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegal...	OMIM:612840
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Flexion contracture, Small for gestational age, Protuberant abdomen, Disproportionate short-trunk...	OMIM:613330
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Carney Triad	Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Lymphedema, Subcutaneous nodule, Atri...	ORPHA:324
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Pmm2-Cdg	Multiple joint contractures, Lymphedema, Intracranial hemorrhage, Hypoalbuminemia, Vomiting, High...	ORPHA:79318
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L...	OMIM:227650
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Sudden cardiac death, Renal tubular acidosis, Transient hyperlipidemia, Arrhythmia,...	ORPHA:156
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Epicanthus, Telecanthus, Recurrent pneumonia, Upslanted palpebral fissure...	OMIM:620330
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Pulmonary artery stenosis, Growth d...	ORPHA:667
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Displac...	ORPHA:1556
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Aciduria, Microvesicular hepatic steatosi...	OMIM:203700
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Pneumonia, Malabsorption, Diarrhea, Atypical or prolonged hepatitis, Hypoc...	ORPHA:83471
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, P...	OMIM:619351
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Co...	ORPHA:567983
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,...	OMIM:230800
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Abdominal diste...	ORPHA:2604
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Diamond-Blackfan Anemia 3	Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol...	OMIM:610629
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, L...	OMIM:227645
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Atrial sep...	OMIM:618652
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic car...	OMIM:615279
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Subdural hemorrhage, Intracranial he...	ORPHA:169802
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Incr...	OMIM:612562
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Short stature, Cryptorchidism, Feeding difficu...	ORPHA:261265
Fraser Syndrome 3	Hypoplasia of penis, Nonimmune hydrops fetalis, Abnormal lung lobation, Ureteral agenesis, Ascite...	OMIM:617667
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Atresia Of Urethra	Pulmonary insufficiency, Renal insufficiency, Hydroureter, Abdominal distention, Megacystis, Pate...	ORPHA:105
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Thyroid Hypoplasia	Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Thyroid ...	ORPHA:95720
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasti...	OMIM:612089
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, P...	ORPHA:904
Orthostatic Hypotension 2	Orthostatic hypotension, Anemia	OMIM:618182
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Fraser Syndrome 2	Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal atresia, Renal hy...	OMIM:617666
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Postnata...	ORPHA:96179
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Achondrogenesis, Type Ii	Polyhydramnios, Edema, Disproportionate short-trunk short stature, Hydrops fetalis, Cleft palate,...	OMIM:200610
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Webbed neck	OMIM:601355
Williams-Beuren Syndrome	Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroes...	OMIM:194050
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Severe short stature, Cleft palate, Disproportionate short-limb short stature, P...	OMIM:184250
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Ventricular septal defect	OMIM:620210
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Disproportionate short-limb short statur...	OMIM:269250
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Edema, Pulmonary embolism, ...	ORPHA:70591
Dravet Syndrome	Pallor	ORPHA:33069
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Prolonged QRS complex, Polyhydramnios, Oral-pharyngeal dysphagia, ...	ORPHA:273
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Peau d'orange, Ventricular septal defect, Splenomegaly, Atrial septal defect, Dry s...	OMIM:614576
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Splenomegaly, Hyperlipidemia, Jaundice	ORPHA:79477
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Gonadoblastoma	Abdominal pain, Abdominal distention, Ovarian gonadoblastoma, Abnormality of the ovary, Dysgerminoma	ORPHA:206484
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Lymphatic Malformation 12	Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Pleural th...	OMIM:620014
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar...	OMIM:616589
Pituitary Apoplexy	Hypertension, Normochromic anemia, Pallor, Hypotension	ORPHA:95613
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular...	OMIM:615996
Thanatophoric Dysplasia, Type I	Polyhydramnios, Disproportionate short-limb short stature, Pulmonary hypoplasia, Protuberant abdo...	OMIM:187600
Adenohypophysitis	Normochromic anemia, Pallor, Orthostatic hypotension	ORPHA:95512
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyeb...	OMIM:614748
Familial Multiple Lipomatosis	Hyperlipidemia, Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue	ORPHA:199276
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, Gastroesophageal ref...	OMIM:619472
Waardenburg Syndrome Type 2	Telecanthus, Aganglionic megacolon, Hypopigmented skin patches, Abnormality of the pulmonary arte...	ORPHA:895
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Rectal abscess, Cell...	OMIM:306400
Sheehan Syndrome	Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Vesicoureteral refl...	ORPHA:3455
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Telecanthus, Short stature, Protuberant abdomen	OMIM:617102
Neu-Laxova Syndrome 2	Ablepharon, Polyhydramnios, Edema, Cleft palate, High palate, Protuberant abdomen, Intrauterine g...	OMIM:616038
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
D-Bifunctional Protein Deficiency	Hepatomegaly, Epicanthus, Polyhydramnios, Fetal ascites, Feeding difficulties in infancy, Splenom...	OMIM:261515
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Yellow Fever	Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase conc...	ORPHA:99829
Panhypophysitis	Normochromic anemia, Pallor, Orthostatic hypotension	ORPHA:95513
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaun...	ORPHA:646
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Oligohydramnios, Dehydration, Atrial septal defect, Patent foramen ova...	OMIM:208085
Bohring-Opitz Syndrome	Bilateral cleft palate, Sacral dimple, Epicanthus, Short stature, Intestinal malrotation, Polyhyd...	OMIM:605039
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Hematuria, Intracranial hemorrhage, Hyper...	ORPHA:35909
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Increased nuchal translucency, Hypotension, Atrial septal defect, Pate...	OMIM:615668
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, Atrial septal defect, ...	OMIM:610733
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Short stature, Malabso...	ORPHA:289176
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect	OMIM:602501
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Abdominal distention, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, An...	OMIM:271520
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Non-Functioning Pituitary Adenoma	Hypotension, Pallor, Anemia of inadequate production	ORPHA:91349
Lethal Kniest-Like Dysplasia	Polyhydramnios, Mesomelic/rhizomelic limb shortening, Edema, Cleft palate, Severe short-limb dwar...	ORPHA:2347
Irida Syndrome	Pallor	ORPHA:209981
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Webbed neck, Atrial septal ...	OMIM:617478
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Hyperphosphatemia, Hypocalcemic tetany...	ORPHA:93325
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Inguinal hernia, Hepatomegaly, Malabsorption, Heparan sulfate...	ORPHA:581
Atelosteogenesis Type Ii	Bilateral cleft palate, Epicanthus, Telecanthus, Rhizomelia, Polyhydramnios, Elbow flexion contra...	ORPHA:56304
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:619189
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect	OMIM:619769
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Edema, Renal salt wasting, Increas...	OMIM:613090
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm...	ORPHA:95455
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Tyshchenko Syndrome	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Hyperlipidemia, Generalized lipodystrophy, Thin skin, Dermal atrophy, ...	ORPHA:90154
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Fibrochondrogenesis 1	Omphalocele, Rhizomelia, Hydrops fetalis, Cleft palate, Protuberant abdomen, Camptodactyly, Joint...	OMIM:228520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Rhizomelia, Polyhydramnios, Pulmonary hypoplasia, Protuberant abdomen, Neonatal short-limb short ...	OMIM:151210
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Polyhydramnios, Abdominal distention, Microcolon, Megacystis, Hydronephrosis	OMIM:619362
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Thyroid Ectopia	Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Ectopic ...	ORPHA:95712
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect	OMIM:618330
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, D...	OMIM:230900
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Fibrous Dysplasia Of Bone	Short stature, Hypercalcemia, Elevated circulating growth hormone concentration, Testicular neopl...	ORPHA:249
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ...	ORPHA:565612
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Feeding difficu...	ORPHA:116
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abnormal left ventricular functio...	OMIM:301056
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle...	OMIM:179613
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta, Fetal ascites, Hydrops fetalis, Polyhydramnios	OMIM:215045
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,...	OMIM:616564
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Preauricular pit, Hepatomegaly, Portal hypertension, Malformation of ...	OMIM:208540
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Degcags Syndrome	Pancytopenia, Tachycardia, Ventricular septal defect, Polyhydramnios, Congenital hypoplastic anem...	OMIM:619488
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc...	OMIM:235400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Abdominal distention, Disproportionate short-limb short stature, Hepatomegaly	OMIM:602557
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Roifman Syndrome	Splenomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia	OMIM:616651
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect, Webbed neck	ORPHA:2516
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the ga...	ORPHA:309271
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Costello Syndrome	Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Mitral valve ...	ORPHA:3071
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Short stature, Absent eyelashes, Hyperlipidemia, Flexion contracture...	ORPHA:90153
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Steroid-responsive anemia, Anemia	OMIM:613309
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Epicanthus, Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Esoph...	ORPHA:93271
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect	OMIM:613870
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa...	OMIM:618494
X-Linked Mandibulofacial Dysostosis	Epicanthus, Short stature, Cryptorchidism, High palate, Pulmonic stenosis, Abnormality of the pul...	ORPHA:1131
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Palmop...	OMIM:605275
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Large for gestational age, Flexion contracture, Abnormal aortic arch morphology, ...	ORPHA:96334
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr...	OMIM:618027
Kagami-Ogata Syndrome	Ventricular septal defect, Polyhydramnios, Splenomegaly, Pulmonic stenosis, Atrial septal defect,...	OMIM:608149
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve atresia, Aortic valve...	ORPHA:210122
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Currarino Syndrome	Neurogenic bladder, Anal stenosis, Urinary incontinence, Perianal abscess, Gastrointestinal obstr...	OMIM:176450
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Duodenal Atresia	Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter...	ORPHA:1203
X-Linked Acrogigantism	Increased body mass index, Enlarged pituitary gland, Elevated circulating growth hormone concentr...	ORPHA:300373
Gaucher Disease Type 3	Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L...	OMIM:227646
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Diabetic Embryopathy	Ureteral duplication, Cryptorchidism, Abnormality of the pancreas, Cleft palate, Abnormal aortic ...	ORPHA:1926
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Conjunctivitis, Gastroesophageal reflux, Sparse medial eyebrow, Recurre...	OMIM:616268
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Disproportionate short stature, Severe short stature, Hepatosplenomegaly	ORPHA:93352
Weill-Marchesani Syndrome 2	Short stature, Proportionate short stature, Congestive heart failure, Elbow flexion contracture, ...	OMIM:608328
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Webbed neck	OMIM:616559
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Hydrocele testis, Mitral regurgitation, Pulmonary arterial...	OMIM:620244
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Edema, ...	OMIM:602522
Achondrogenesis, Type Ia	Polyhydramnios, Protruding tongue, Increased nuchal translucency, Disproportionate short-trunk sh...	OMIM:200600
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Greenberg Dysplasia	Hepatomegaly, Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Increased nuchal translucenc...	OMIM:215140
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
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Webbed neck, Atrial septal defect, Double outl...	OMIM:618316
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges...	ORPHA:185
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Epicanthus, Small for gestational age, Growth delay, High palate, Intrauterin...	OMIM:618500
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Blomstrand Lethal Chondrodysplasia	Telecanthus, Rhizomelia, Polyhydramnios, Protruding tongue, Hydrops fetalis, Coarctation of aorta...	ORPHA:50945
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Urinary incontinence, Cholecystitis	ORPHA:309256
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia	OMIM:617994
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal car...	OMIM:614294
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Webbed neck	ORPHA:2345
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucency, Atrial septal ...	OMIM:618870
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Incontinentia Pigmenti	Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor	OMIM:308300
Ascites, Chylous	Chylous ascites	OMIM:208300
Mowat-Wilson Syndrome	Hypospadias, Aganglionic megacolon, Pulmonary artery sling, Short stature, Supernumerary nipple, ...	OMIM:235730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Tay-Sachs Disease	Pallor	OMIM:272800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ...	OMIM:306955
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck	OMIM:618950
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios	ORPHA:1923
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Prune Belly Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Oligohydramnios	ORPHA:2970
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy...	OMIM:617022
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Asplenia, Abnormal lung lobation, Hypospadias, Nonimmune hydrops fetalis, Esophag...	OMIM:265380
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Pallor, Polyhydramnios	ORPHA:1199
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Hypospadias, Short stature, Myocardial infarction, Cryptorchidism, Subcutane...	ORPHA:500
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Urinary incontinence, Cholecystitis	ORPHA:309263
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Pancreatitis, Hereditary	Abdominal pain, Pancreatitis, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatic ca...	OMIM:167800
King-Denborough Syndrome	Ventricular septal defect, Webbed neck	OMIM:619542
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Jacobsen Syndrome	Feeding difficulties in infancy, Eyelid coloboma, Abnormality of the anus, Multicystic kidney dys...	ORPHA:2308
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Sho...	OMIM:208500
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Polyhydramnios, Mitral valve prolaps...	OMIM:609942
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Achilles tendon c...	OMIM:616263
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Hypoplastic right heart	OMIM:618142
Bone Marrow Failure Syndrome 3	Epicanthus, Short stature, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchidis...	OMIM:617052
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Aspleni...	ORPHA:99776
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:500159
Sotos Syndrome	Ureteral duplication, Flexion contracture, Pedal edema, Gastroesophageal reflux, Vesicoureteral r...	ORPHA:821
Childhood Absence Epilepsy	Pallor	ORPHA:64280
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Shwachman-Diamond Syndrome 2	Hepatomegaly, Short stature, Hyperechogenic pancreas, Diarrhea, High palate, Steatorrhea, Failure...	OMIM:617941
Ogden Syndrome	Cardiogenic shock, Arrhythmia, Ventricular septal defect, Cutis laxa	ORPHA:276432
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va...	OMIM:609029
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Dyggve-Melchior-Clausen Disease	Severe short stature, Rhizomelia, Recurrent upper respiratory tract infections, Disproportionate ...	ORPHA:239
Emanuel Syndrome	Redundant neck skin, Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial sep...	ORPHA:96170
Atelosteogenesis Type I	Telecanthus, Rhizomelia, Polyhydramnios, Malrotation of colon, Cleft palate, Neonatal short-trunk...	ORPHA:1190
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Feeding difficulties in infancy, Abnormal pulmonary vein mo...	ORPHA:709
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul...	ORPHA:261250
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Flexion contracture, Feeding difficulties, Disproportionate short-limb short stature...	OMIM:619479
Myopathy With Extrapyramidal Signs	Splenomegaly, Leukocytosis, Ventricular septal defect	OMIM:615673
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Asplenia, Partial anomalous pulmonary venous return, Ano...	OMIM:619657
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Trisomy 13	Atrial septal defect, Ventricular septal defect, Hydrops fetalis	ORPHA:3378
Spondylo-Ocular Syndrome	Ventricular septal defect, Webbed neck	ORPHA:85194
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Redundant neck skin, Ventricular septal de...	ORPHA:2519
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Congenital Tracheal Stenosis	Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Ascending aorta hypoplasia, Abnormal ...	ORPHA:141127
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestational age, Renal...	OMIM:229850
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ...	OMIM:300855
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
19Q13.11 Microdeletion Syndrome	Dry skin, Ventricular septal defect, Thin skin	ORPHA:217346
Microphthalmia, Syndromic 9	Ventricular septal defect, Hypoplastic left atrium, Multilobulated spleen, Hypoplastic spleen, Ne...	OMIM:601186
Gm1 Gangliosidosis	Ventricular septal defect, Splenomegaly, Congestive heart failure, Hydrops fetalis, Hepatosplenom...	ORPHA:354
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Ventricular septal defect	OMIM:615630
Trisomy 1Q	Increased nuchal translucency, Ventricular septal defect, Hydrops fetalis, Polyhydramnios	ORPHA:261344
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect	OMIM:610832
Atelosteogenesis, Type I	Rhizomelia, Polyhydramnios, Cryptorchidism, Cleft palate, Disproportionate short-limb short statu...	OMIM:108720
Syndromic Diarrhea	Aortic regurgitation, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Increased me...	ORPHA:84064
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Woods Syndrome	Ventricular septal defect	OMIM:615236
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Hydrops fe...	ORPHA:79329
Faundes-Banka Syndrome	Epicanthus, Fetal ascites, Feeding difficulties in infancy, Cryptorchidism, Hypoplasia of the low...	OMIM:619376
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Redundant neck skin, Ventricular septal defect, Polyhydramnios	OMIM:617360
Niemann-Pick Disease, Type C2	Hepatomegaly, CNS foam cells, Bone-marrow foam cells, Fetal ascites, Polyhydramnios, Splenomegaly...	OMIM:607625
Trisomy 8P	Sacral dimple, Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Abnormal ...	ORPHA:264450
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
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Joubert Syndrome 18	Ventricular septal defect	OMIM:614815
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Decreased response to growth hormone stimulation test, Celiac diseas...	ORPHA:293987
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Double outlet right ventricle, Dry skin, Neutropenia, Pulmonary arteri...	ORPHA:163956
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:301039
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Mitral regurgitation, Ventricular septal defect	OMIM:603387
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Anomalous pulmonary...	ORPHA:3097
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Fetal ascit...	OMIM:257220
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Right bundle branch block, Mi...	OMIM:617506
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Cutis ...	OMIM:123700
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Jacobsen Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morpholo...	OMIM:147791
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Aromatase Deficiency	Eunuchoid habitus, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Cryptorchidism, Hyp...	ORPHA:91
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora...	OMIM:612582
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Radio-Tartaglia Syndrome	Dry skin, Ventricular septal defect, Striae distensae	OMIM:619312
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At...	ORPHA:477817
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Bohring-Opitz Syndrome	Recurrent respiratory infections, Short stature, Feeding difficulties in infancy, Synophrys, Naev...	ORPHA:97297
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
Heart And Brain Malformation Syndrome	Ventricular septal defect, Polyhydramnios	OMIM:616920
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Polyhydramnios	OMIM:219730
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Hepatoblastoma, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral...	OMIM:130650
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Cardiofacioneurodevelopmental Syndrome	Asplenia, Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Webbed neck	OMIM:270450
Pagod Syndrome	Omphalocele, Multicystic kidney dysplasia, Short stature, Congenital diaphragmatic hernia, Sudden...	ORPHA:991
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per...	OMIM:301040
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:616777
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Carpenter Syndrome 1	Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Polysplenia, A...	OMIM:201000
Feingold Syndrome 1	Accessory spleen, Epicanthus, Jejunal atresia, Tricuspid stenosis, Polyhydramnios, Asplenia, Esop...	OMIM:164280
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Pyknoachondrogenesis	Abdominal distention, Muscular edema, Palpebral edema	ORPHA:3003
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
1P36 Deletion Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno...	ORPHA:1606
Fanconi Anemia, Complementation Group B	Aplastic anemia, Ventricular septal defect, Thrombocytopenia	OMIM:300514
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect	OMIM:619909
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aspl...	OMIM:270100
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa...	OMIM:601808
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Knee flexion contracture, Disproportionate short-limb short stature, Protuberant abdo...	OMIM:618019
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ...	OMIM:158170
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent foramen ovale, Oligohydramnios	OMIM:620113
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
Goodpasture Syndrome	Pallor, Anemia, Pulmonary hemorrhage	OMIM:233450
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:220500
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa...	OMIM:600376
Trichothiodystrophy	Ventricular septal defect, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, N...	ORPHA:33364
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Eosinophilia, Edema of the dorsum of hand...	OMIM:274000
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Down Syndrome	Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Partial a...	OMIM:190685
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Ly...	OMIM:163950
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Ventricular septal defect	OMIM:617061
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Dry skin, Ventricular septal defect	OMIM:619306
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Polysplenia, Atrial septal defect, Te...	ORPHA:1335
Leigh Syndrome	Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic cardiomyopathy, An...	ORPHA:506
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Heart murmur	ORPHA:166035
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios	ORPHA:96201
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Spleno...	OMIM:614866
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Ventricular septal defect, Oligohydramnios	OMIM:619229
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Growth delay...	ORPHA:3464
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	OMIM:616449
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:300998
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Telangiectasia, Hematochezia, Mitral valve prolapse, Mitral regurgitation, Anemia	OMIM:175050
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Webbed neck, Atrial septal defect,...	ORPHA:209905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Transketolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:488618
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
De Barsy Syndrome	Ventricular septal defect, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency	ORPHA:2962
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Hypocalcemic seizures	OMIM:612301
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, ...	OMIM:607721
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out...	OMIM:187300
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis, Atrial septal defect, Dry skin	OMIM:610443
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect, Thin skin	OMIM:617602
Kasabach-Merritt Syndrome	Abdominal distention, Hepatic hemangioma, Abdominal pain	ORPHA:2330
Char Syndrome	Ventricular septal defect	ORPHA:46627
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Webbed neck	ORPHA:1780
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Facial edema, Periorbital edema, Retroperitoneal fibrosis, Enla...	ORPHA:449432
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Alagille Syndrome	Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect	ORPHA:52
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Malnutrition, Weight loss, Pancreatic calcification, Chronic...	ORPHA:103918
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect	OMIM:613680
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Oligohydramnios	OMIM:611812
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect	ORPHA:452
Recombinant 8 Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Redundant skin	ORPHA:96167
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect	OMIM:117550
Alg9-Cdg	Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Hydrops fetalis, Abnorm...	ORPHA:79328
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Acute leukemia, Transpositi...	ORPHA:3474
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:457193
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis	OMIM:614114
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Mosaic Trisomy 1	Increased nuchal translucency, Ventricular septal defect, Polyhydramnios	ORPHA:1692
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
Okamoto Syndrome	Redundant neck skin, Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology,...	ORPHA:2729
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Pedal edema, Mitral valve prolapse	OMIM:617107
C Syndrome	Ventricular septal defect, Cutis laxa	OMIM:211750
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Atrial septal defect, Truncus arteriosus, Tetralogy o...	ORPHA:2008
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Cleft hard palate, Asplenia, Flexion contracture, Vesicoureteral reflux, We...	ORPHA:261537
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Increased nuchal translucency, Ventricular septal defect	ORPHA:79345
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Erythema, Abnormal cardiac septum morpholo...	ORPHA:2092
Kleefstra Syndrome	Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia	ORPHA:261494
Chops Syndrome	Splenomegaly, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return	OMIM:616368
Phaver Syndrome	Ventricular septal defect	ORPHA:2876
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Cleft hard palate, Asplenia, Flexion contracture, Vesicoureteral reflux, We...	ORPHA:261552
Cohen Syndrome	Neutropenia, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Epicanthus, Small for gestational age, Short stature, Postnatal growth retardation, Chalazion, Pu...	OMIM:613355
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Webbed neck, Patent ...	OMIM:616894
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Dry skin, Webbed neck, Acute lymphoblastic leukemia, Transposition of ...	OMIM:280000
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Webbed neck, Pulmonary arterial...	OMIM:620025
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis	OMIM:263520
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect	OMIM:309520
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:488632
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect, Webbed neck	OMIM:178110
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610759
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Aortic valve stenosis, Oligohydr...	ORPHA:464311
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hyperlipidemia, Decreased testicular size, Micropenis	OMIM:241080
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Trisomy 18	Atrial septal defect, Webbed neck, Ventricular septal defect, Oligohydramnios	ORPHA:3380
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death	OMIM:620024
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Dry skin, Ventricular septal defect	ORPHA:769
Kapur-Toriello Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244300
Trichohepatoneurodevelopmental Syndrome	Splenomegaly, Ventricular septal defect, Polyhydramnios	OMIM:618268
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis	ORPHA:268249
Zellweger Syndrome	Ventricular septal defect	ORPHA:912
Frank-Ter Haar Syndrome	Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola...	OMIM:249420
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect	OMIM:106260
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	OMIM:277600
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Oligohydramnios, Dehydration, Cardiomegaly	ORPHA:96191
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ventricular septal defect, Polyhydramnios, Splenomega...	ORPHA:373
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Polyhydramnios, Webbed neck, Atrial septal defect, Oligohydramnios	OMIM:300373
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:464738
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect	OMIM:300963
Costello Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Webbed nec...	OMIM:218040
Loeys-Dietz Syndrome 5	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Mitral regurgitation	OMIM:615582
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect...	OMIM:309801
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Ventricular septal defect	OMIM:214100
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal tr...	ORPHA:3472
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Splenomegaly, Skin ulcer, Aortic valve stenosis, Dry ...	ORPHA:955
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hypersplenism, Splenomegaly, Hematemesis, Partial...	OMIM:301068
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect	OMIM:300472
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect, Oligohydramnios	ORPHA:464306
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim...	ORPHA:508498
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic regurgitation	ORPHA:261330
Congenital Disorder Of Glycosylation, Type Iiw	Ventricular septal defect, Microcytic anemia, Splenomegaly, Anemia, Tetralogy of Fallot, Thromboc...	OMIM:619525
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale	OMIM:618454
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect	ORPHA:2710
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormality of the spleen, Arrhyt...	ORPHA:2162
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Dry skin, Hypertension, Stillbirth...	OMIM:210710
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:142900
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613457
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Tricuspid valve prolapse, We...	ORPHA:261337
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,...	OMIM:602535
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect	ORPHA:3138
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:352665
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Neona...	OMIM:256520
Cornelia De Lange Syndrome 1	Ventricular septal defect, Thrombocytopenia	OMIM:122470
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:607323
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
7Q11.23 Microduplication Syndrome	Atrial septal defect, Aortic valve stenosis, Ventricular septal defect	ORPHA:96121
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Mckusick-Kaufman Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart	ORPHA:2473
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve...	OMIM:139210
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m...	ORPHA:500095
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Opitz Gbbb Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:2745
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Perimembranou...	OMIM:180849
Pallister-Hall Syndrome	Neonatal death, Ventricular septal defect	OMIM:146510
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm...	ORPHA:466791
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for...	OMIM:619268
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Cerebrocostomandibular Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Webbed neck	OMIM:117650
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis	OMIM:614609
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valve morpholo...	ORPHA:1507
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Atrial septal defect, A...	ORPHA:818
Cerebrocostomandibular Syndrome	Ventricular septal defect, Webbed neck	ORPHA:1393
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3047
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor...	ORPHA:363958
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Diets-Jongmans Syndrome	Ventricular septal defect, Polyhydramnios	OMIM:618846
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, O...	ORPHA:508488
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect, Conjunctival telangiectasia	OMIM:257920
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Webbed neck	OMIM:613458
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Palpebral edema, Congesti...	OMIM:619475
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Marden-Walker Syndrome	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Abnormal anatomic location of th...	ORPHA:2461
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Pulmonary arteria...	ORPHA:444077
Coffin-Siris Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology	ORPHA:1465
Mosaic Trisomy 16	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:1708
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation	OMIM:271640
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Dilatation of the ventricular cavity, Ventricular septal defect, Polyhydram...	ORPHA:459070
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Mitral...	OMIM:157800
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ...	OMIM:301043
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Phace Association	Ventricular septal defect	OMIM:606519
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353277
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Patent foramen ovale	OMIM:616975
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ...	ORPHA:353281
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Polyhydramnios, Splenomegaly, Cardiomyopathy, Total anomalous pulmonar...	OMIM:312870
Kabuki Syndrome 1	Atrial septal defect, Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia	OMIM:147920
Zttk Syndrome	Atrial septal defect, Ventricular septal defect, Aortic regurgitation	OMIM:617140
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu...	OMIM:300166
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Wolf-Hirschhorn Syndrome	Atrial septal defect, Ventricular septal defect, Accessory spleen, Webbed neck	OMIM:194190
Hajdu-Cheney Syndrome	Ventricular septal defect	OMIM:102500
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo...	OMIM:607872
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Ca...	OMIM:216340
Peters-Plus Syndrome	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Webbed neck, Atrial septal defect	OMIM:261540
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Webbed neck	ORPHA:434179
Cornelia De Lange Syndrome	Atrial septal defect, Increased nuchal translucency, Ventricular septal defect	ORPHA:199
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect	OMIM:268300
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Oligohydramnios	ORPHA:672
Genitopatellar Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:606170
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Coffin-Siris Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:135900
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect	OMIM:181450
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect	ORPHA:513456
Orofaciodigital Syndrome Xiv	Atrial septal defect, Ventricular septal defect	OMIM:615948
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	OMIM:192350
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Polyhydramnios, Stillbirth, Aortic valve ...	OMIM:601803
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Ventricular septal defect	OMIM:619522
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Craniofacial Microsomia 1	Tetralogy of Fallot, Ventricular septal defect	OMIM:164210

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 Plvap

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 Plvap.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Lack of endothelial diaphragms in fenestrae and caveolae of mutant Plvap-deficient mice.	Histochemistry and cell biology (July 2012)	Plvap^{tm1e(EUCOMM)Hmgu}	22782339

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Plvap^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Plvap^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Plvap^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Plvap^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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