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Gene: Epha3 MGI:99612

Gene Summary

Name:

Eph receptor A3

Synonyms:

End3, Tyro4, Cek4, Hek4, Mek4, Hek

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased thigmotaxis	Epha3^em1(IMPC)Mbp	HOM	Early adult	6.66×10^-05
abnormal kidney morphology	Epha3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased anxiety-related response	Epha3^em1(IMPC)Mbp	HOM	Early adult	1.93×10^-05
abnormal behavior	Epha3^em1(IMPC)Mbp	HOM	Early adult	6.57×10^-05
decreased liver weight	Epha3^em1(IMPC)Mbp	HOM	Early adult	3.92×10^-05
hyperactivity	Epha3^em1(IMPC)Mbp	HOM	Early adult	4.39×10^-07
small liver	Epha3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Epha3^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Epha3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Epha3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Epha3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Epha3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Epha3^em1(IMPC)Mbp	HOM	Early adult	1.28×10^-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

47 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Epha3 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 Epha3 (0 diseases)
Human diseases predicted to be associated with Epha3 (1342 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Epha3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he...	ORPHA:60041
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Left a...	ORPHA:75249
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cirrhotic Cardiomyopathy	Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg...	ORPHA:57777
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa...	ORPHA:980
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Dilated, 1Ff	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613286
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i...	ORPHA:330001
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc...	OMIM:601005
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop...	OMIM:113900
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure, Death in infancy	OMIM:212080
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular f...	ORPHA:199241
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch...	ORPHA:860
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Cardiomegaly, Right vent...	ORPHA:439
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi...	OMIM:612877
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Cyanosis, Congestive heart failure, ...	ORPHA:2414
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Myopathy, Myofibrillar, 1	Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr...	OMIM:601419
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Inter...	OMIM:181350
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat...	ORPHA:563
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract...	OMIM:614096
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne...	ORPHA:98909
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ...	OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Ventricular...	OMIM:212138
Asbestos Intoxication	Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on...	ORPHA:2302
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase con...	OMIM:619048
Systemic Capillary Leak Syndrome	Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Pedal edema, Pleural effusi...	ORPHA:188
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ...	ORPHA:185
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Respiratory distress, Tachycardia, Hepatomegaly, Ventricular septal defect...	ORPHA:26793
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent...	OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t...	OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Congenital Gerbode Defect	Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf...	ORPHA:99095
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr...	OMIM:617397
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist...	ORPHA:1209
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophi...	OMIM:616277
Neonatal Lupus Erythematosus	Prolonged QT interval, Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Heart bloc...	ORPHA:398124
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pl...	ORPHA:542323
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ...	OMIM:617300
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti...	OMIM:620236
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy	OMIM:618815
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy, Death in childhood	OMIM:618683
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Cherry re...	ORPHA:796
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Death in infancy, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy	OMIM:618235
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Congenital Myopathy 24	Cardiomyopathy, Reduced vital capacity, First degree atrioventricular block	OMIM:617336
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Combined Oxidative Phosphorylation Deficiency 17	Death in childhood, Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy	OMIM:615440
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Liver a...	ORPHA:2038
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Neonatal respiratory distress, Fatal liver failure in infancy, Lethargy	ORPHA:254857
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Congestive hear...	OMIM:255160
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of...	ORPHA:97214
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia	ORPHA:871
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim...	OMIM:619608
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu...	ORPHA:132
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis	ORPHA:2022
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, ...	OMIM:619064
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Death in childhood, Lethar...	OMIM:246900
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cyanos...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, A...	OMIM:614702
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased...	ORPHA:275766
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Hepatic steatosis, Lethargy	ORPHA:26792
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Paroxysmal Extreme Pain Disorder	Flushing, Tachycardia, Bradycardia, Rhinorrhea	OMIM:167400
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Scorpion Envenomation	Bundle branch block, Edema, Tachypnea, Prominent U wave, Elevated circulating aspartate aminotran...	ORPHA:466677
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm...	OMIM:267450
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276556
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyo...	OMIM:619424
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy...	OMIM:615745
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia	OMIM:602079
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276575
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie...	OMIM:620233
Congenital Myopathy 8	Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly	OMIM:618654
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly...	OMIM:235200
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent...	OMIM:540000
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st...	OMIM:618234
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141184
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,...	ORPHA:363705
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil...	ORPHA:90068
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ...	ORPHA:66624
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Schizophrenia 15	Hyperactivity	OMIM:613950
Congenital Left Ventricular Aneurysm	Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma...	ORPHA:1055
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hep...	OMIM:615415
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:619386
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276580
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Death in chi...	OMIM:269920
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Respiratory insufficiency due ...	OMIM:613561
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulm...	ORPHA:99745
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ...	ORPHA:324
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Bradycardia, Atrioventricular block	OMIM:614407
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta...	ORPHA:45452
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:608099
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Nonimmune hydrops fetalis, Por...	ORPHA:367
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Congestive heart failur...	ORPHA:31826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Dehydration, Cardiomyopathy, Stroke, Lethargy, ...	ORPHA:79312
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Death in infancy, Abnormal pulmonary valve morphology, Congestive heart failure, Re...	ORPHA:1194
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death,...	OMIM:619751
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Neonatal respiratory distress, First degree atrioventricular block, Polyhydr...	ORPHA:589821
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Sudden cardiac death, Arrhythmia, Lethargy, Hypertro...	ORPHA:156
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy	ORPHA:206546
Babesiosis	Hepatomegaly, Myocardial infarction, Congestive heart failure, Recurrent pharyngitis, Jaundice, S...	ORPHA:108
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepatocellular nec...	OMIM:201475
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu...	OMIM:105210
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o...	ORPHA:79230
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati...	ORPHA:137667
Idiopathic Congenital Hypothyroidism	Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice	ORPHA:95717
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato...	OMIM:253300
Necrotizing Enterocolitis	Shock, Apnea, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy, ...	ORPHA:391673
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Microvesicular hepatic...	OMIM:611126
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr...	ORPHA:70591
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Hypertension, Hepatic steatosis, Premature coron...	OMIM:615703
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen, Elevated uri...	OMIM:121300
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Death in infancy, Bradycardia, Decreased liver function, Pulmonary...	OMIM:616299
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Death in infancy, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic steno...	OMIM:619433
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Edema, Patent ductus arteriosus, Neonatal death, Lethargy	OMIM:610498
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Mogs-Cdg	Respiratory distress, Hypoventilation, Hepatomegaly, Generalized edema, Apnea, Edema, Cardiomegal...	ORPHA:79330
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac...	ORPHA:36238
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Heart block, Cardiomyopathy, Abnormal left ventricular function	ORPHA:98912
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, De...	ORPHA:70472
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Heart...	ORPHA:3426
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure, Polyhydramnios	OMIM:616794
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric...	OMIM:253250
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Fanconi Anemia, Complementation Group Q	Biliary atresia, Primum atrial septal defect	OMIM:615272
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Bipolar affective disorder	ORPHA:254351
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Hydrops Fetalis, Nonimmune	Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis	OMIM:236750
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Death in infancy, Cardiac arrest, Myofiber disarray, Lethargy...	OMIM:604377
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Dk1-Cdg	Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hy...	ORPHA:91131
Cln3 Disease	Depression, Bradykinesia, T-wave inversion, Bradycardia, Left ventricular hypertrophy	ORPHA:228346
Heparin-Induced Thrombocytopenia	Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia	ORPHA:3325
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular ta...	OMIM:605676
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter...	ORPHA:2326
Mitochondrial Complex I Deficiency, Nuclear Type 6	Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyop...	OMIM:618228
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Cardiomyopath...	ORPHA:2394
Ogden Syndrome	Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic...	OMIM:300855
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole...	OMIM:618775
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia, Respiratory insufficiency	OMIM:614654
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi...	ORPHA:98853
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal...	ORPHA:163596
Gitelman Syndrome	Prolonged QT interval, Respiratory distress, Neoplasm of the pancreas, Pericardial effusion, Rayn...	ORPHA:358
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio...	ORPHA:340
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Ventricular tachyca...	ORPHA:159
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Respiratory insufficiency, Death in infancy	ORPHA:157973
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomeg...	ORPHA:308552
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Dyspnea, Splenomeg...	ORPHA:3386
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Bradycardia, Ne...	OMIM:610015
Hellp Syndrome	Elevated hepatic transaminase, Generalized edema, Cerebral hemorrhage, Poor wound healing, Prolon...	ORPHA:244242
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Co...	ORPHA:465508
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro...	OMIM:616483
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respirat...	OMIM:614299
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, ...	OMIM:614922
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Cyanosis, Splenic rupture, Abnormal umbilical stump bleeding, Pro...	ORPHA:335
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, S...	ORPHA:2257
Ovarian Hyperstimulation Syndrome	Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm...	ORPHA:64739
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice	ORPHA:79238
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Respiratory insufficiency, Death in childhood	OMIM:618224
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ...	ORPHA:183
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Lethargy, Ar...	ORPHA:42
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cholestasis, Cardio...	ORPHA:746
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Secundum atrial septal defect, Congestive heart failure, Patent du...	OMIM:616866
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia	OMIM:615010
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Hepatomeg...	OMIM:232300
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P...	OMIM:160900
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri...	OMIM:608758
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Angiokeratoma, Lymphedema, Con...	OMIM:301500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia, Depression	OMIM:609286
Transaldolase Deficiency	Edema, Abnormal respiratory system physiology, Hydrops fetalis, Coarctation of aorta, Biventricul...	ORPHA:101028
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Atrial septal defect, Pulmonary arteri...	OMIM:614857
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insuffi...	ORPHA:98863
Immune-Mediated Necrotizing Myopathy	Raynaud phenomenon, Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morpho...	ORPHA:206569
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Dehydration, Respiratory insufficiency, Cardiomyopathy, Lethargy, Pancreatitis	ORPHA:27
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition...	ORPHA:1461
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotranspositio...	OMIM:306955
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Evans Syndrome	Epistaxis, Dyspnea, Jaundice, Syncope, Lethargy, Bruising susceptibility, Petechiae	ORPHA:1959
Gm1-Gangliosidosis, Type I	Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Congestive heart failure, Spleno...	OMIM:230500
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre...	ORPHA:99828
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy	ORPHA:1349
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinuria, Anemia	OMIM:238700
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect, Congestive heart failure, Polyhydramnios	ORPHA:500533
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart...	OMIM:310200
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart mo...	ORPHA:2847
Familial Aortic Dissection	Aortic regurgitation, Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent d...	ORPHA:229
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Prematurely aged appearance, Poor wound healing,...	OMIM:123700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Cyclic Vomiting Syndrome	Cardiomyopathy, Lethargy	OMIM:500007
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic ca...	ORPHA:254913
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Developmental And Epileptic Encephalopathy 40	Lethargy, Hyaline membranes	OMIM:617065
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep...	ORPHA:1909
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours...	ORPHA:3427
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial e...	ORPHA:1054
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu...	OMIM:613243
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification...	OMIM:208000
Lyme Disease	Joint swelling, Arrhythmia, Atrioventricular block	ORPHA:91546
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Apnea, Bradycardia	OMIM:619814
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Dilated cardiomyopathy	OMIM:618120
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Anemia, Nephrotic syndrome, Focal segm...	OMIM:617303
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Do...	ORPHA:3304
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnor...	ORPHA:1120
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy	ORPHA:324575
Ogden Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Lethargy	ORPHA:276432
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph...	ORPHA:1354
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoac...	OMIM:234500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Lujo Hemorrhagic Fever	Shock, Respiratory distress, Elevated hepatic transaminase, Generalized edema, Crackles, Excessiv...	ORPHA:319213
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Atrial fibrill...	ORPHA:273
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia, Pancreatic islet-cell hyperplasia	ORPHA:276608
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Cednik Syndrome	Congestive heart failure, Stroke	ORPHA:66631
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Lung abscess, Liver abscess, Abnormal pericardium morphology, Dysp...	ORPHA:67
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity	OMIM:615924
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Familial Thyroid Dyshormonogenesis	Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice	ORPHA:95716
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Propionic Acidemia	Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy, Lethargy, Pan...	OMIM:606054
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability	OMIM:605899
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca...	OMIM:619573
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy,...	OMIM:251000
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Hydrops Fetalis	Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capilla...	ORPHA:1041
Scrub Typhus	Abnormal bleeding, Myocarditis, Dyspnea, Splenomegaly, Restrictive ventilatory defect, Hypotensio...	ORPHA:83317
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte...	ORPHA:555877
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right...	ORPHA:97287
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Atransferrinemia	Congestive heart failure, Abnormality of the liver	OMIM:209300
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apn...	OMIM:608836
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom...	ORPHA:91139
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Abnormal repe...	OMIM:239500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Cough, Atrial septal defec...	OMIM:619991
Congenital Heart Defects, Multiple Types, 9	Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r...	OMIM:620294
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Congestive heart failure, Splenomegaly, Prominent veins on trunk...	ORPHA:79083
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms, Hepatomegaly	OMIM:615637
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Lethargy, Cyanosis	ORPHA:71277
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Third degree atrioventricular block	OMIM:530000
Avian Influenza	Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, Co...	ORPHA:454836
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Heart murmur, Abnormal heart morphology	ORPHA:1867
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Edema, Dy...	ORPHA:90051
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Hyperoxaluria, Primary, Type I	Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr...	OMIM:259900
Classic Multiminicore Myopathy	Right ventricular failure, Intermittent episodes of respiratory insufficiency due to muscle weakn...	ORPHA:324604
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ...	OMIM:620306
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis...	OMIM:215600
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly...	ORPHA:280365
Okamoto Syndrome	Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal...	ORPHA:2729
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Cutis marmorata, Epistaxis, Congestive hear...	ORPHA:727
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Prematurely aged appearance, Pulmonary artery stenos...	ORPHA:3342
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Positive regitine blocking...	ORPHA:94080
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc...	OMIM:115195
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo...	ORPHA:99827
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal...	OMIM:252920
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia	ORPHA:85446
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Meckel Syndrome 14	Tricuspid regurgitation, Cyanosis, Increased nuchal translucency, Pneumothorax, Oligohydramnios, ...	OMIM:619879
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithias...	OMIM:232200
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc...	ORPHA:2331
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Cholera	Tachycardia, Miscarriage, Tachypnea, Dehydration, Hypovolemic shock, Stroke, Hypotension, Aspirat...	ORPHA:173
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Edema, Ja...	ORPHA:20
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia	OMIM:231000
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Respiratory insufficiency due to muscle weakness, Cardiomyopathy, Abnormal atrioventricular condu...	ORPHA:329336
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Congenital Myopathy 11	Elevated hepatic transaminase, Neonatal respiratory distress, Polyhydramnios, Patent ductus arter...	OMIM:619967
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Buerger Disease	Acrocyanosis, Vasculitis	ORPHA:36258
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Dilated cardiomyopathy, Bradycardia, Death in infancy	OMIM:610768
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Erythema, Death in childhood, Left ventricular hypertrophy, ...	OMIM:618321
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Erythema, Retinal h...	OMIM:614653
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Hepatomegaly, Congestive heart failure, Splenomegaly, Hypertrophic cardiomyopa...	ORPHA:2348
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Cutis marmorata, Epistaxis, Periorbital edema, Congest...	ORPHA:33226
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex...	ORPHA:905
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Apnea, Bradycardia	OMIM:614498
Glut1 Deficiency Syndrome 2	Splenomegaly, Irritability, Hemolytic anemia, Reticulocytosis	OMIM:612126
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Bicuspid aortic valve, Mitral atresia, Increased hepatocellular lipid droplets,...	OMIM:220111
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Hepatic failure, Predominantly lower limb lymphedema	ORPHA:261519
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:610655
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Irritability, Cirrhosis, Hepatic failure	OMIM:613489
Glossopharyngeal Neuralgia	Jaw claudication, Depression, Syncope, Bradycardia, Vascular dilatation	ORPHA:221098
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Phenylketonuria	Hyperactivity, Elevated urinary phenylpyruvic acid level, Increased level of hippuric acid in uri...	OMIM:261600
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Cough, Raynaud ph...	ORPHA:3260
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert...	ORPHA:263297
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg...	OMIM:615355
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Left atrial enlargement, Progeroid facial appearance, Dyspnea, Right...	OMIM:614008
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Dyspne...	ORPHA:26791
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Excessive wrinkled skin, Arteriovenous malformation	ORPHA:137608
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, ...	ORPHA:509
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Bipolar affective disorder, Stroke	ORPHA:3077
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Stroke, Cerebral ischemia, Lethargy	ORPHA:927
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system	ORPHA:2204
Atrophoderma Vermiculata	Heart block, Erythema	ORPHA:79100
Gaba-Transaminase Deficiency	Lethargy, Death in childhood	OMIM:613163
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula...	OMIM:613507
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin...	OMIM:613327
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Congestive heart failure, Cirrhosis, Hypertrophic card...	ORPHA:528
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ...	OMIM:616501
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia	ORPHA:93317
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Respiratory insufficiency, Dehydration	ORPHA:28
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Hepatic steatosis, Congestive heart failure, Weakness of muscles of respiration	ORPHA:52430
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Morm Syndrome	Hyperactivity, Micropenis, Abnormality of the kidney, Aggressive behavior	ORPHA:75858
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia...	OMIM:618300
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Cutis marmorata, Ventricular septal defect, Portal hypertension, Splenom...	OMIM:616589
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly...	OMIM:209950
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage, Dehydration	OMIM:243500
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Stroke-like episode	OMIM:619272
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat...	ORPHA:71212
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Stroke, Hypotension, Lethargy, Petechiae, Purpura	ORPHA:33475
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Bradycardia, Prolonged neonatal jaundice	ORPHA:226313
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Hepatomegaly, Re...	ORPHA:365
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation, Angioker...	ORPHA:53721
Classic Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Neona...	ORPHA:525731
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Depression, Cardiomyopathy, Increased hepatic glycogen co...	OMIM:619259
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransferase concentration, Se...	OMIM:608779
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi...	ORPHA:228410
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal bleeding, Poor wound healing, Congestive heart failure, Recurrent pneumonia, Arterial ru...	ORPHA:1900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ven...	OMIM:614866
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Sple...	ORPHA:581
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ...	OMIM:203800
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Atrial fibrillation, Bipolar affective disorder, Edema, Dilated ca...	ORPHA:254892
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Elevated hepatic transaminase, Death in infancy, Polyhydramnios, Congestive...	OMIM:617156
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Congestive heart failure, Patent duc...	ORPHA:354
D-Glyceric Aciduria	Neonatal respiratory distress, Patent ductus arteriosus, Bradycardia	OMIM:220120
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Apnea, Death in childhood	OMIM:618225
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Polyhydramnios, Respiratory insufficiency, Bradycardia, Neonatal death	OMIM:620351
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Abnormal pattern of respiration	OMIM:608800
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Erythema, In...	ORPHA:449285
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Edema, Polyhydramnios, Patent ductus arteriosus, Recurrent pneumonia, Recur...	OMIM:607143
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Tetralogy of Fallot	OMIM:250620
Tetanus	Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia	ORPHA:3299
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concen...	OMIM:620300
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Asthma, Recurrent pneumo...	OMIM:309900
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia, Exertional dyspnea	ORPHA:90037
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Farber Lipogranulomatosis	Splenomegaly, Irritability, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Intr...	ORPHA:53035
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Reduced number of intrahepatic bile ducts, Lethargy, Abnormal heart ...	ORPHA:79284
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascendi...	ORPHA:141127
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh...	OMIM:619827
Pontocerebellar Hypoplasia, Type 6	Lethargy, Apnea, Death in childhood	OMIM:611523
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong...	OMIM:601808
Erdheim-Chester Disease	Abnormal pericardium morphology, Retroperitoneal fibrosis, Dyspnea, Congestive heart failure, Abn...	ORPHA:35687
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Dyspnea, Congestive heart failure, Xerostomia, Pulmonary fibrosis, Pu...	ORPHA:220393
Waardenburg Syndrome Type 3	Atrial septal defect, Atelectasis, Acrocyanosis, Tracheomalacia	ORPHA:896
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect	OMIM:613870
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Exertional dyspnea	ORPHA:90033
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ...	OMIM:249270
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Heart...	ORPHA:3309
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Bradycardia, Edema, Prolonged neonatal jaundice	ORPHA:90673
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Hepatomegaly, Hyperactivity, Splenomegaly	OMIM:252900
Severe Canavan Disease	Lethargy	ORPHA:314911
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Dyspnea, Splenomegaly, Low-output congestive heart failure, Abnorm...	ORPHA:565612
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction...	ORPHA:221
Werner Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Abnormal cerebral vascular morphology, M...	ORPHA:902
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Patent ductus arteriosus, Mit...	OMIM:612561
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Lethargy, Apnea, Respiratory insufficiency	OMIM:618226
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Dysphagia	ORPHA:89844
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly	ORPHA:391428
Acquired Purpura Fulminans	Shock, Hepatic failure, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acr...	ORPHA:49566
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Hepatic cysts, Glomerular subepithelial immune-complex de...	OMIM:614377
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre...	OMIM:176670
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous...	ORPHA:745
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat...	ORPHA:624
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
H Syndrome	Abnormality of the kidney, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Micropenis, En...	ORPHA:168569
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest...	OMIM:615512
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Patent ductus arteriosus, Jaundice, Hypopnea, Respiratory failure, Brady...	OMIM:617248
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Left ventricular hyper...	OMIM:619355
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Asthma, Micronod...	OMIM:606003
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Japanese Encephalitis	Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati...	ORPHA:79139
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res...	ORPHA:244
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100080
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Marburg Hemorrhagic Fever	Shock, Abnormal bleeding, Pericarditis, Tachycardia, Elevated hepatic transaminase, Excessive ble...	ORPHA:99826
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Oligohydramnios, Polyhydramnios, Aortic regurgitation	OMIM:615476
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatome...	ORPHA:171
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, ...	OMIM:225750
Hyperkalemic Periodic Paralysis	Death in early adulthood, Death in infancy, Congestive heart failure, Respiratory insufficiency, ...	ORPHA:682
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver	ORPHA:205
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Depression, Ascites, Lethargy, Hepatic fai...	ORPHA:79239
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pancreatic islet-cell hyperplasia, Leth...	ORPHA:263455
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Diamino...	OMIM:207800
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ...	ORPHA:79282
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Splenome...	ORPHA:824
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Depression, Aspiration pneumonia	ORPHA:79264
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Hypoplastic right heart, Congestive heart failure, Pneumotho...	OMIM:617403
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun...	ORPHA:3208
Colchicine Poisoning	Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc...	OMIM:617253
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Hypersplenism, Dyspnea, Splenomegaly, Abnormal pulmonary interstitial mo...	OMIM:230800
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	OMIM:610978
Insulinoma	Lethargy, Abnormality of the pancreatic islet cells, Palpitations	ORPHA:97279
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Neonatal death...	OMIM:608978
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Congestive h...	ORPHA:579
Illum Syndrome	Apnea, Bradycardia	OMIM:208155
Alagille Syndrome 2	Cholestasis, Hypertension, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Te...	OMIM:610205
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Microphthalmia, Syndromic 9	Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l...	OMIM:601186
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Tachypnea, Cardiomyocyt...	ORPHA:423
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Nephrolithiasis, Stage 5 chronic kidney disease, ...	ORPHA:79259
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated card...	OMIM:615895
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Asthma, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc...	OMIM:614823
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra...	ORPHA:391487
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly	OMIM:306000
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun...	OMIM:607765
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He...	OMIM:235555
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Thrombocytopen...	ORPHA:158057
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Depression, Bradycardia, Prolonged neonatal jaundice, Lethargy	ORPHA:90674
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d...	OMIM:620244
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100082
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Death in infancy, Cyanosis, Apnea, Splenomegaly, Concentric hypertrophic cardiomyop...	OMIM:252010
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke	ORPHA:268943
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno...	OMIM:106700
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic...	OMIM:130650
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Splenomegaly, Me...	ORPHA:91138
Listeriosis	Respiratory distress, Pericarditis, Liver abscess, Miscarriage, Pneumonia, Myocarditis, Congestiv...	ORPHA:533
Encephalitis Lethargica	Lethargy, Bradycardia, Hyperventilation	ORPHA:83600
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Positive regitine blocking...	ORPHA:276621
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse	OMIM:225320
Mitral Valve Prolapse 1	Mitral regurgitation, Mitral valve prolapse	OMIM:157700
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai...	ORPHA:90349
Leopard Syndrome 1	Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ...	OMIM:151100
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Dysphagia	OMIM:252930
Martsolf Syndrome 1	Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Cardiomyopathy, Trach...	OMIM:212720
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Bipolar affective disorder, Supraventricular tachycardia with an accesso...	ORPHA:404443
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Irritability, Peripo...	ORPHA:79328
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Benign Samaritan Congenital Myopathy	Lethargy, Abnormal respiratory system physiology	ORPHA:324581
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Dehydration, Hypertension, Bradyc...	ORPHA:94093
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Lethargy	OMIM:201470
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Pancreatitis, Lethargy	ORPHA:289916
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Cardiomegaly, Abnormal cardiac septum morphology, Bradyc...	ORPHA:97297
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Lethargy, Breathing dysregulation	OMIM:618232
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Central Diabetes Insipidus	Lethargy, Dehydration, Depression	ORPHA:178029
Optic Atrophy 8	Mitral regurgitation, Mitral valve prolapse	OMIM:616648
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta...	OMIM:175050
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem...	ORPHA:743
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy	OMIM:237310
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis, Respiratory insuffi...	OMIM:166210
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Erythema, Urticaria, Acrocyan...	ORPHA:343
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Dextrocardia, Patent ductus arteriosus, Atrial septal defect, Lethargy	OMIM:277380
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites	ORPHA:834
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia,...	ORPHA:77259
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar...	ORPHA:500
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgitation, Hepatic cysts	OMIM:173900
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Abnormal bleeding, Polyhydramnios, Congestive heart failure, Recurrent pneu...	OMIM:616271
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cu...	ORPHA:100075
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Dyspnea, Hepatitis, Melena, C...	ORPHA:319218
Cutis Laxa, Autosomal Recessive, Type Ib	Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi...	OMIM:614437
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hypertension, Arteriosclerosis of small cere...	ORPHA:1830
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d...	OMIM:270100
Methylcobalamin Deficiency Type Cble	Hypertension, Abnormality of the liver, Lethargy	ORPHA:2169
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Dominant Beta-Thalassemia	Hypersplenism, Dyspnea, High-output congestive heart failure, Dilated cardiomyopathy, Jaundice, S...	ORPHA:231226
Citrullinemia Type Ii	Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Abnormal eating behavio...	ORPHA:247585
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat...	OMIM:616482
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, ...	OMIM:608149
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios...	ORPHA:51608
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple...	ORPHA:210122
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia	OMIM:185070
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy	OMIM:610006
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Bruising susceptibility, Arterial rupture, Poor wound healing	OMIM:619115
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Miscarriage, Myocarditis, Congestive heart failure, Jau...	ORPHA:3385
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Edema, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Dehydratio...	ORPHA:79404
Refsum Disease	Heart block, Cardiomyopathy, Respiratory insufficiency, Splenomegaly	ORPHA:773
Aarskog-Scott Syndrome	Congestive heart failure	ORPHA:915
Poems Syndrome	Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventil...	ORPHA:2905
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ...	ORPHA:508542
Gracile Bone Dysplasia	Asplenia, Micropenis, Ascites, Hypoplastic spleen	OMIM:602361
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Hepatoblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas...	ORPHA:116
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen...	OMIM:616564
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Isolated Complex I Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Respiratory insufficiency	ORPHA:2609
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Decreased liver function, Lethargy, Hepatomegaly	OMIM:238970
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Edema, Hypertension, Lethargy, Oligohydramnios	ORPHA:97362
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Parkes Weber Syndrome	Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Subarac...	ORPHA:90307
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Agitation	OMIM:619046
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney	OMIM:252500
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Livedo reticularis	OMIM:614651
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Abnormal bleeding, Crackles, Hepatic failure, Tachypnea, ST segment depres...	ORPHA:466650
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Prematurely aged appearance, Congestive heart failure, Dilatation of the ve...	ORPHA:90348
Beta-Thalassemia Major	Hepatomegaly, Hypersplenism, Dyspnea, High-output congestive heart failure, Dilated cardiomyopath...	ORPHA:231214
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Riboflavin Deficiency	Lethargy	OMIM:615026
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp...	ORPHA:230851
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Pneumonia, Respiratory tract infection, Lethargy, Arrhythmia, Cer...	ORPHA:68
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr...	ORPHA:100924
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Cardiac-Urogenital Syndrome	Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Prolonged bleeding time, Co...	OMIM:618280
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Poor wound healing, Dilated cardiomyopathy, Cardiomyopathy, Mitral re...	OMIM:212112
Medulloblastoma	Neoplasm of the lung, Lethargy, Cerebellar hemorrhage, Elevated hepatic transaminase	ORPHA:616
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Positive regitine blocking...	ORPHA:29072
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Bron...	ORPHA:1199
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Low frustration tolerance, Abnormal temper tant...	ORPHA:163681
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ...	OMIM:267010
Idiopathic Intracranial Hypertension	Lethargy, Depression	ORPHA:238624
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Recurrent urinary tract infections, Abnormal repetitive mannerisms, Bruxism, Enure...	OMIM:615873
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Death in infancy, Ventric...	OMIM:208085
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Mitral valve prolapse, Pleuritis, Mitral regurgitation, Ascites	ORPHA:2848
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Lethargy, Hepatic steatosis, Cerebral edema	OMIM:201450
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos...	ORPHA:699
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ...	ORPHA:740
Carcinoid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Asthma, Heart ...	ORPHA:100093
Primary Hyperoxaluria	Elevated hepatic transaminase, Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusi...	ORPHA:416
Marfan Syndrome	Aortic regurgitation, Reduced subcutaneous adipose tissue, Tricuspid regurgitation, Bicuspid aort...	OMIM:154700
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Combined Oxidative Phosphorylation Deficiency 39	Death in childhood, Recurrent respiratory infections, Sinus bradycardia	OMIM:618397
Breath-Holding Spells	Cyanosis	OMIM:607578
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, Hepatic calcification, Ca...	ORPHA:228308
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Aggressive behavior, Bilateral renal hypoplasia, Hyperechogenic kidn...	OMIM:619695
Citrullinemia Type I	Lethargy, Tachypnea, Hepatic failure	ORPHA:247525
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Polydipsi...	OMIM:239200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb...	ORPHA:2177
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent respiratory infections, Prominent superficial veins, Cor triatriatum, Hepatomegaly, Sec...	OMIM:612541
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Sialuria	Splenomegaly, Hepatomegaly, Increased level of N-acetylneuraminic acid in urine, Attention defici...	OMIM:269921
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Alobar Holoprosencephaly	Central apnea, Abnormal heart morphology, Abnormal heart rate variability, Depression, Apathy, As...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Abnormal heart morphology, Abnormal heart rate variability, Depression, Apathy, As...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Abnormal heart morphology, Abnormal heart rate variability, Depression, Apathy, As...	ORPHA:93924
Yellow Fever	Shock, Abnormal bleeding, Acute pancreatitis, Elevated circulating aspartate aminotransferase con...	ORPHA:99829
Semilobar Holoprosencephaly	Central apnea, Abnormal heart morphology, Abnormal heart rate variability, Depression, Apathy, As...	ORPHA:220386
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Angioosteohypotrophic Syndrome	Prominent superficial veins, Telangiectasia of the skin, Venous malformation, Edema	ORPHA:75508
Pyruvate Dehydrogenase Deficiency	Dyspnea, Tachypnea, Lethargy	ORPHA:765
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ...	OMIM:618314
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring	OMIM:603387
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud pheno...	ORPHA:48435
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten...	ORPHA:85450
Legionnaires Disease	Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, H...	ORPHA:549
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Anasarca, Exocrine pancreatic insufficiency	OMIM:260450
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad...	OMIM:613673
Hypercalcemia, Infantile, 1	Lethargy, Dehydration	OMIM:143880
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ...	OMIM:607625
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm	OMIM:301039
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Familial Dysautonomia	Abnormal peritoneum morphology, Recurrent respiratory infections, Orthostatic hypotension, Tachyc...	ORPHA:1764
Marfan Syndrome	Mitral valve calcification, Spontaneous pneumothorax, Congestive heart failure, Descending aortic...	ORPHA:558
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Mitral regurgitati...	OMIM:608328
Aceruloplasminemia	Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Apathy, Cirrhosis, Elev...	ORPHA:48818
Trichinellosis	Edema, Facial edema, Periorbital edema, Retinal hemorrhage, Central retinal artery occlusion, Apa...	ORPHA:863
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Asthma, Abnormal h...	ORPHA:444077
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Tarp Syndrome	Cyanosis, Apnea, Pulmonary hypoplasia, Atrial septal defect, Tetralogy of Fallot, Persistent left...	ORPHA:2886
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Stroke, Cerebral edema	OMIM:237300
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Incre...	OMIM:261680
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Aromatic L-Amino Acid Decarboxylase Deficiency	Cardiorespiratory arrest, Lethargy, Apnea, Hypotension	OMIM:608643
Vici Syndrome	Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath...	OMIM:242840
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Familial Hypoaldosteronism	Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos...	OMIM:300908
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Emotional lability, Irritability, Hepatomegaly	OMIM:201100
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg...	ORPHA:829
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre...	OMIM:223900
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Edema	ORPHA:2505
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Pedal edema...	ORPHA:228116
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Autosomal Dominant Hypocalcemia	Congestive heart failure, Depression, Hypotension, Arrhythmia, Abnormal pattern of respiration	ORPHA:428
Erythrocytosis, Familial, 2	Plethora, Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Thrombocytopen...	OMIM:603553
Leigh Syndrome	Ventricular septal defect, Congestive heart failure, Respiratory failure, Hypertrophic cardiomyop...	ORPHA:506
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent e...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Polyhydramnios, Intermittent e...	ORPHA:98914
Abetalipoproteinemia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Congestive heart fa...	ORPHA:14
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect, Recurrent respiratory infections, Xerostomia, Lethargy	ORPHA:398069
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate...	OMIM:605275
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Cherry red spot of the macula, Mitral regurgitation, Mitral valve prolapse	ORPHA:309155
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Atypical Werner Syndrome	Hepatic steatosis, Prominent superficial veins, Telangiectasia of the skin, Prematurely aged appe...	ORPHA:79474
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Patent ductus arteriosus, Varicose veins, Abnormality of the...	ORPHA:33001
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis	OMIM:231050
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadeno...	ORPHA:540
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Lymphadenopathy, Irritability, Leukopenia...	OMIM:267700
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Leukopenia, Microphallus, Hypo...	OMIM:617053
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Progeroid facial appearance, Cardiomegaly, Congestiv...	OMIM:256040
Maple Syrup Urine Disease	Lethargy, Pancreatitis, Cerebral edema	OMIM:248600
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Lethargy, Bradycardia, Prolonged neonatal jaundice	ORPHA:226307
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ...	ORPHA:2519
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic...	ORPHA:568051
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney	ORPHA:508
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Mucolipidosis Type Ii	Aortic regurgitation, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:576
Bacterial Toxic-Shock Syndrome	Shock, Respiratory distress, Tachycardia, Sinusitis, Pneumonia, Edema, Respiratory tract infectio...	ORPHA:36234
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Card...	ORPHA:98908
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Recurrent pneumonia, A...	OMIM:225400
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology...	ORPHA:904
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Hepatosplenomegaly	OMIM:611590
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Holocarboxylase Synthetase Deficiency	Respiratory distress, Lethargy, Tachypnea	ORPHA:79242
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Dravet Syndrome	Bradykinesia, Cyanotic episode	ORPHA:33069
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Congestive heart failure, Pedal edema	ORPHA:247353
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing...	ORPHA:287
Cardiospondylocarpofacial Syndrome	Mitral regurgitation, Mitral valve prolapse	ORPHA:3238
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Kaposi Sarcoma	Lymphedema, Venous insufficiency, Abnormality of the spleen, Abnormal lung morphology, Abnormalit...	ORPHA:33276
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle morphology, He...	ORPHA:284979
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa...	OMIM:602782
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocyto...	ORPHA:77297
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Elevated...	OMIM:277900
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Posterior Urethral Valve	Hypertension, Lethargy, Oligohydramnios	ORPHA:93110
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Apnea, Lethargy	OMIM:210200
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:612387
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Elevated circul...	OMIM:300972
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest...	OMIM:610199
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS...	OMIM:611174
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Livedoid Vasculopathy	Telangiectasia of the skin, Abnormal capillary morphology, Poor wound healing, Cutis marmorata, V...	ORPHA:542643
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph...	ORPHA:500095
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Late-Onset Isolated Acth Deficiency	Lethargy, Orthostatic hypotension, Hepatitis, Hypotension	ORPHA:199299
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Scalp-Ear-Nipple Syndrome	Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca...	OMIM:181270
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot...	OMIM:115470
Lysinuric Protein Intolerance	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Intraalveolar phospholipid accumu...	ORPHA:470
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblast...	ORPHA:84064
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Lethargy, Bradycardia	OMIM:218700
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly, Lethargy, Dehydration	OMIM:251110
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Hydrops fetalis, Macr...	OMIM:557000
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Hepatitis,...	ORPHA:781
Genetic Transient Congenital Hypothyroidism	Lethargy, Edema, Prolonged neonatal jaundice	ORPHA:226316
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Familial Tumoral Calcinosis	Nephrocalcinosis, Hepatomegaly, Splenomegaly	ORPHA:53715
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale...	OMIM:600001
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Renal tubular ...	ORPHA:79240
Proteus Syndrome	Splenomegaly, Venous malformation	OMIM:176920
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Pancreatic isle...	OMIM:312870
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Coarctation of aorta...	ORPHA:124
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym...	ORPHA:1655
Mungan Syndrome	Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Citrullinemia, Classic	Hepatomegaly, Stroke, Cirrhosis, Lethargy, Cerebral edema	OMIM:215700
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Erythema, Retinal hemorrhage, Cerebral isch...	ORPHA:464
Tuberous Sclerosis Complex	Hyperactivity, Renal insufficiency, Abnormality of the kidney, Impulsivity, Aggressive behavior, ...	ORPHA:805
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Lethargy	ORPHA:2089
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg...	OMIM:614185
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:311250
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, At...	OMIM:105650
Goodpasture Syndrome	Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Restrictive ven...	OMIM:233450
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Respiratory tract infection, Dyspnea, Facial edema, P...	ORPHA:567546
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly, Lethargy, Dehydration	OMIM:251100
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Reduced subcutaneous adipose tissue, Prominent superficial veins, Tricuspid...	OMIM:617402
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific...	OMIM:182250
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Myasthenia Gravis	Raynaud phenomenon, Dyspnea, Acrocyanosis, Hepatitis	ORPHA:589
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Eosinophilic Fasciitis	Muscular edema, Acrocyanosis, Edema	ORPHA:3165
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Ventricular septal defect, Bicuspid aortic v...	OMIM:619475
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Cutis marmorata, Cardiomegaly, Raynaud phenomenon, Calcification o...	ORPHA:51
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Dyspnea, Jaundice, Hypertension, Stroke, Budd-Chiari s...	ORPHA:447
Biotinidase Deficiency	Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Lethargy	OMIM:253260
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression, Prolonged neonatal jaundice	ORPHA:99832
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Pulmonary artery stenosis, Hyp...	OMIM:100300
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Macrocytic anemia, Polysplenia, Attention deficit hyperactivity disorder, Dilatati...	OMIM:614294
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo...	OMIM:609942
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Xerostomia, Lethargy	ORPHA:398079
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Cirrhosis, Le...	OMIM:229600
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia	OMIM:230900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten...	OMIM:615688
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neoplasm of t...	ORPHA:77293
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Dysphagia...	OMIM:617913
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p...	OMIM:619482
Rh Deficiency Syndrome	Tachycardia, Miscarriage, Jaundice, Tachypnea, Hepatosplenomegaly, Hypoxemia, Oligohydramnios	ORPHA:71275
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Jaundice, Tachypnea	OMIM:615751
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Sarcoidosis	Heart block, Abnormal lung morphology, Ventricular tachycardia, Cough, Emphysema, Hepatomegaly, P...	ORPHA:797
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Holocarboxylase Synthetase Deficiency	Lethargy, Tachypnea, Hyperventilation	OMIM:253270
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy, Stroke, Apnea	ORPHA:395
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Hydrops fetalis, Hepatic...	OMIM:263520
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Nephro...	OMIM:608594
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicose veins, Abnormal venous mor...	ORPHA:79452
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Abnormality of the pancreas, Respiratory insufficiency, Cardiomyopathy...	ORPHA:175
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis, Le...	OMIM:207900
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Shortened QT interval, Hematemesis, Insulinoma, Dehydration, Depression...	ORPHA:652
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu...	ORPHA:284984
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Peritonitis, Leukocytosis, Stage 5 chronic kidney disea...	OMIM:249100
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Complete atrioventr...	ORPHA:508488
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysp...	OMIM:219800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Chronic hepatic failure, Lethargy	ORPHA:469
Choreoacanthocytosis	Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Leth...	ORPHA:415
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Ren...	OMIM:260920
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,...	OMIM:617925
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Aggressive behavior, Bone-marrow foam cells, Splenomegaly, Jaundice,...	ORPHA:646
Hallermann-Streiff Syndrome	Tracheomalacia, Congestive heart failure, Abdominal situs inversus, Respiratory insufficiency	ORPHA:2108
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery...	ORPHA:71273
Hypothyroidism, Congenital, Nongoitrous, 5	Mitral regurgitation, Patent foramen ovale	OMIM:225250
Biotinidase Deficiency	Respiratory distress, Lethargy, Apnea, Hyperventilation	ORPHA:79241
Transcobalamin Ii Deficiency	Hepatomegaly, Lethargy	OMIM:275350
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Emotional lability, Hyperactivity, Hyperechogenic...	OMIM:620047
Brucellosis	Hepatomegaly, Liver abscess, Glomerulonephritis, Anorexia, Hypersplenism, Splenomegaly, Leukocyto...	ORPHA:1304
Plague	Respiratory distress, Abnormal bleeding, Tachycardia, Hepatomegaly, Edema, Hematemesis, Splenomeg...	ORPHA:707
Carney Complex	Neoplasm of the pancreas, Dorsocervical fat pad, Cardiac myxoma, Congestive heart failure, Hypert...	ORPHA:1359
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Anorexia, Splenomegaly,...	ORPHA:50918
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Stage 5 chronic kidney disease, Leukopenia, Aminoac...	OMIM:222700
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien...	ORPHA:2929
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Familial Mediterranean Fever	Acute hepatic failure, Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis,...	ORPHA:342
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th...	OMIM:263700
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurr...	ORPHA:293987
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute...	ORPHA:29073
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia, Hypercapnia	OMIM:601887
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy	OMIM:210210
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia	OMIM:615636
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy	OMIM:277400
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Alström Syndrome	Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Dil...	ORPHA:64
Hypermobile Ehlers-Danlos Syndrome	Apnea, Venous insufficiency, Depression, Ascending tubular aorta aneurysm, Arterial dissection, A...	ORPHA:285
Proteus-Like Syndrome	Venous insufficiency, Bronchogenic cyst, Subcutaneous lipoma, Splenomegaly	ORPHA:2969
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymp...	OMIM:181000
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,...	ORPHA:353281
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Breathing dysregulation	ORPHA:407
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Histidinemia	Histidinuria, Hyperactivity	ORPHA:2157
Enlarged Parietal Foramina	Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Glycerol Kinase Deficiency	Lethargy, Chronic pancreatitis	OMIM:307030
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy	ORPHA:306674
Pitt-Hopkins Syndrome	Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Impuls...	ORPHA:353277
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation, Lymphedema	OMIM:613089
Coffin-Lowry Syndrome	Mitral regurgitation, Acrocyanosis, Cutis marmorata	OMIM:303600
Clapo Syndrome	Varicose veins, Venous malformation, Lymphedema	ORPHA:168984
Familial Cerebral Cavernous Malformation	Venous malformation, Vascular skin abnormality, Cerebral hemorrhage	ORPHA:221061
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation	ORPHA:79093
Multiple Osteochondromas	Pneumothorax, Pseudoaneurysm, Hemothorax	ORPHA:321
Pineoblastoma	Lethargy	ORPHA:251909
Occipital Horn Syndrome	Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Bruising susceptibility, Vascular dilatation	ORPHA:198
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Generalized abnormality of skin, Arteriovenous malfo...	ORPHA:83454
Microphthalmia With Limb Anomalies	Venous insufficiency, Death in infancy	ORPHA:1106
Norrie Disease	Venous insufficiency	ORPHA:649

Histopathology

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

There is no histopathology data for Epha3

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Epha3.

No publications found that use IMPC mice or data for Epha3.

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

MGI Allele	Allele Type	Produced
Epha3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Epha3^em1(IMPC)Mbp	Exon Deletion	Mice
Epha3^{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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Gene: Epha3 MGI:99612

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Epha3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data