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Gene: Plce1 MGI:1921305

Gene Summary

Name:

phospholipase C, epsilon 1

Synonyms:

4933403A21Rik, PLCepsilon

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 lymphocyte cell number	Plce1^em1(IMPC)Mbp	HOM	Early adult	2.30×10^-05
abnormal heart morphology	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
prolonged QRS complex duration	Plce1^em1(IMPC)Mbp	HOM	Early adult	9.83×10^-05
increased heart weight	Plce1^em1(IMPC)Mbp	HOM	Early adult	7.94×10^-11
abnormal spleen morphology	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Plce1^em1(IMPC)Mbp	HOM	Early adult	1.43×10^-09
increased monocyte cell number	Plce1^em1(IMPC)Mbp	HOM	Early adult	6.63×10^-07
abnormal skin morphology	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

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 Lateral Orientation

60 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Human diseases caused by Plce1 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 Plce1 (2 diseases)
Human diseases predicted to be associated with Plce1 (1005 diseases)

The table below shows human diseases associated to Plce1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nephrotic Syndrome, Type 3		Hypoalbuminemia	OMIM:610725
Genetic Steroid-Resistant Nephrotic Syndrome		Hypoalbuminemia	ORPHA:656

The table below shows human diseases predicted to be associated to Plce1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement	OMIM:615377
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste...	OMIM:607941
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart	OMIM:241550
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale	OMIM:247610
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s...	OMIM:619897
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Williams-Beuren Syndrome (WBS)	Aortic valve stenosis	DECIPHER:3
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis	OMIM:114065
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Pfeiffer-Palm-Teller Syndrome	Aortic valve stenosis	ORPHA:2871
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi...	ORPHA:228410
Aortic Valve Disease 3	Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve	OMIM:618496
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis	OMIM:607016
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve	OMIM:615981
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Pulmonic stenosis	OMIM:614819
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Nephronophthisis 16	Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En...	OMIM:615382
Partial Atrioventricular Septal Defect	Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio...	ORPHA:1330
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Ethanolaminosis	Cardiomegaly	OMIM:227150
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Mitral regurgitation, Pulmonic stenosis, Aortic valv...	OMIM:614823
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase...	ORPHA:3093
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve	ORPHA:228190
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis	OMIM:252605
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse	OMIM:225320
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve	OMIM:619825
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve	OMIM:604381
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension	ORPHA:401923
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins...	OMIM:619705
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology	ORPHA:98892
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr...	ORPHA:555877
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Aortic regurgitation, Pulmonic stenosis, Mitral valve prolapse	OMIM:609008
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Sneddon Syndrome	Hypertension, Cerebral hemorrhage, Bicuspid aortic valve, Ischemic stroke	OMIM:182410
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve	OMIM:618845
Familial Bicuspid Aortic Valve	Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi...	ORPHA:402075
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve	ORPHA:397951
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Singleton-Merten Syndrome 2	Aortic valve calcification, Aortic valve stenosis, Arrhythmia	OMIM:616298
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Stiff Skin Syndrome	Bicuspid aortic valve	OMIM:184900
Craniosynostosis 1	Aortic valve stenosis, Systolic heart murmur	OMIM:123100
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage	OMIM:300049
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Bicuspid aortic valve, Abnormal left ventricular function	OMIM:132900
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis	OMIM:614224
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Retinitis Pigmentosa 89	Bicuspid aortic valve, Hepatosplenomegaly	OMIM:618955
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematological neoplasm, Intracrania...	ORPHA:99147
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Multiple myeloma, Pulm...	OMIM:230800
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis	OMIM:220220
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Lessel-Kreienkamp Syndrome	Atrial septal defect, Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis	OMIM:619149
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p...	OMIM:612863
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Aortic regurgitation	OMIM:615476
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve	OMIM:300997
Mucopolysaccharidosis, Type X	Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgit...	OMIM:619698
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Abnormal heart morphology, Palpitations, Atrial septal defect, Mitral sten...	ORPHA:2847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Anomalous pulmonary venous return, Abnormal aorti...	ORPHA:1120
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosi...	OMIM:615415
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, ...	OMIM:612098
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Aortic valve stenosis, Joint hemor...	OMIM:193400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Right ventricular hypertrophy	OMIM:253700
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,...	ORPHA:210122
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis	ORPHA:79159
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Supravalvular Aortic Stenosis	Pulmonic stenosis, Supravalvular aortic stenosis	OMIM:185500
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve	OMIM:619318
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Cardiomyopathy	OMIM:600721
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Pulmonic stenosis	ORPHA:75496
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
3-Methylglutaconic Aciduria, Type Iv	Biventricular hypertrophy, Subvalvular aortic stenosis	OMIM:250951
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis, Exostoses	ORPHA:251076
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve steno...	OMIM:614185
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis	OMIM:617660
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve	OMIM:615009
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Bicuspid aortic valve	OMIM:243310
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp...	ORPHA:230851
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Hepatomegaly	ORPHA:369840
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Aortic val...	OMIM:267010
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Rhizomelic Syndrome	Pulmonic stenosis	OMIM:268250
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve	OMIM:619641
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper...	OMIM:613243
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi...	ORPHA:363618
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu...	ORPHA:2326
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Abnormal heart morphology	DECIPHER:16
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Conotruncal defect, Abnormal cardiac septum morphology, Aortic valve stenos...	ORPHA:96147
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist...	ORPHA:70591
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:500159
Antisynthetase Syndrome	Aortic regurgitation, Telangiectasia of the skin, Myocarditis, Neoplasm, Pulmonary arterial hyper...	ORPHA:81
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt...	OMIM:612541
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Sarcosinemia	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:3129
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh...	ORPHA:254346
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ...	ORPHA:2414
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula...	OMIM:613507
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st...	ORPHA:2306
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Noonan Syndrome 14	Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse	OMIM:619745
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Aortic valve stenosis	ORPHA:459061
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Grange Syndrome	Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension	OMIM:602531
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Astrocytoma, Secundum atrial septal defect, ...	ORPHA:1600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va...	OMIM:609029
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, At...	OMIM:121050
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve	OMIM:616367
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation	ORPHA:2181
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis	OMIM:614114
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Branchial Arch Syndrome, X-Linked	Pulmonic stenosis	OMIM:301950
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenos...	OMIM:208050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Ascites	OMIM:269920
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	OMIM:277600
Diamond-Blackfan Anemia 11	Bicuspid aortic valve	OMIM:614900
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, At...	ORPHA:477817
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block...	ORPHA:398124
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Double outlet right ventricle, Supravalvar pulmonary stenosis, Hypoplastic left h...	OMIM:618164
Aortic Aneurysm, Familial Thoracic 10	Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve	OMIM:617168
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Hypertension, Mitral regurgit...	OMIM:611962
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Benign neoplasm of the central nervous system, Hamartoma of tongue, Subvalvular aortic stenosis	ORPHA:1338
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve	OMIM:614501
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal...	ORPHA:3097
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart	ORPHA:261290
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa...	OMIM:601808
Squalene Synthase Deficiency	Bicuspid aortic valve	OMIM:618156
Muscle Filaminopathy	Left ventricular hypertrophy, Cardiomyopathy, Right bundle branch block, Left ventricular diastol...	ORPHA:171445
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Mungan Syndrome	Barrett esophagus, Tricuspid regurgitation, Hypoperistalsis, Perimembranous ventricular septal de...	OMIM:611376
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Neurofibromatosis-Noonan Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:638
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Pulmonic stenosis, Atrial septal defect, Aortic va...	ORPHA:96170
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblast...	ORPHA:84064
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Cirrhosis...	OMIM:613313
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve	OMIM:300958
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Inter...	OMIM:181350
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog...	ORPHA:576
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Aortic valve stenosis, Mitral regurgitation	OMIM:253010
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Pulmonary hemorrhage	OMIM:603585
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert...	ORPHA:263297
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Anauxetic Dysplasia 1	Aortic valve stenosis	OMIM:607095
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Splenomegaly, Hepatosplenomegaly, Mitral...	OMIM:613563
Sandhoff Disease	Splenomegaly, Hepatomegaly, Congestive heart failure	ORPHA:796
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc...	OMIM:618886
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy, Mitral regu...	OMIM:607014
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis	ORPHA:2780
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart...	ORPHA:85438
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Geleophysic Dysplasia 1	Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis	OMIM:231050
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Mitral regurgitation, Pulmonary arterial hypert...	OMIM:607015
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Osteosarcoma, Aortic regurgitation	OMIM:620072
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Bicuspid aortic valve	OMIM:619720
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Acute lymphoblastic leu...	ORPHA:1052
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Hemangioma, Pulmonic stenosis, Atrial septal def...	OMIM:607721
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Alg9-Cdg	Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal ...	ORPHA:79328
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve	ORPHA:96201
Scheie Syndrome	Splenomegaly, Hepatomegaly, Aortic regurgitation	ORPHA:93474
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath...	OMIM:235200
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Temtamy Syndrome	Aortic regurgitation	OMIM:218340
Congenital Heart Defects, Multiple Types, 7	Tetralogy of Fallot, Absence of the pulmonary valve, Pulmonic stenosis	OMIM:618780
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Bicuspid aortic valve	OMIM:176690
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Frontoocular Syndrome	Atrial septal defect, Glabellar hemangioma, Capillary hemangioma, Pulmonic stenosis	OMIM:605321
Legius Syndrome	Multiple lipomas, Neurofibroma, Supravalvar pulmonary stenosis	OMIM:611431
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou...	OMIM:608978
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Abnormal cardiac septum morphology, Mitral atresia	ORPHA:140952
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension	OMIM:121300
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Atrial septal defect, Ao...	OMIM:208540
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hemochromatosis, Type 3	Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction	ORPHA:206559
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonic stenosis, T...	OMIM:222470
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Encephalocraniocutaneous Lipomatosis	Neoplasm of the skeletal system, Visceral angiomatosis, Multiple lipomas, Capillary hemangioma, T...	ORPHA:2396
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo...	OMIM:620294
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve	OMIM:618529
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis	OMIM:217085
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Pulmonic stenosis, Aor...	OMIM:608328
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc...	OMIM:212140
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Splenomeg...	OMIM:614866
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Noonan Syndrome 8	Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr...	OMIM:615355
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat...	OMIM:300280
Adams-Oliver Syndrome 5	Splenomegaly, Right atrial enlargement, Cavernous hemangioma, Pulmonic stenosis, Pulmonary arteri...	OMIM:616028
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610759
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Hepatosplenomegaly	ORPHA:309288
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir...	ORPHA:79301
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Mitral valve prolapse	OMIM:614816
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph...	OMIM:308240
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Kleefstra Syndrome	Ventricular septal defect, Tetralogy of Fallot, Bicuspid aortic valve, Arrhythmia	ORPHA:261494
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Neoplasm, Atrial septal defect, Truncus arteriosus	ORPHA:261330
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect	ORPHA:464311
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Cardiac arrest	ORPHA:77260
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal pulmonary valve morphology, Pulmonic stenosis	ORPHA:137634
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Koolen-De Vries Syndrome	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610443
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Perim...	ORPHA:508498
Koolen-De Vries Syndrome	Abnormal cardiac septum morphology, Bicuspid aortic valve	ORPHA:96169
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Cardiomyopathy	OMIM:608540
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate...	ORPHA:98826
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Heart m...	OMIM:252500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytope...	ORPHA:277
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	OMIM:620010
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti...	OMIM:253250
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Atrial septal defect, Patent foramen ovale, Valvular pulmonary stenosis, Bicuspid aortic valve	OMIM:300707
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Aortic valve stenosis, Ventricular septal defect	ORPHA:464306
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Supravalvular aort...	OMIM:618624
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Babesiosis	Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f...	ORPHA:108
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Hypertension, Cholestasis	OMIM:105200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Lateral Meningocele Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:130720
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve...	OMIM:265380
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M...	OMIM:154700
Immunodeficiency 95	Lymphopenia	OMIM:619773
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Mitral stenosis, Subvalvular aortic stenosis	OMIM:619461
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Serkal Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hypophosphatemic Rickets, Autosomal Recessive, 2	Pulmonic stenosis	OMIM:613312
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Aortic regurgitation, Mitral valve calcification, Mitral stenosis, Angin...	ORPHA:740
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypertrophic cardiomyopathy, Pulmonic stenosis	ORPHA:2701
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:453499
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation	OMIM:616603
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Biventricular hypertrophy, ...	OMIM:617402
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology	ORPHA:401973
Alagille Syndrome 2	Atrial septal defect, Hypertension, Tetralogy of Fallot, Pulmonic stenosis	OMIM:610205
Developmental Delay, Language Impairment, And Ocular Abnormalities	Pulmonic stenosis, Facial telangiectasia	OMIM:620141
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle...	OMIM:179613
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Reactive Arthritis	Aortic regurgitation, Pericarditis	ORPHA:29207
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation	OMIM:252600
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pilomatrixoma, ...	ORPHA:353281
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis	OMIM:610455
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation	ORPHA:261349
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Subvalvular aortic stenosis	OMIM:600430
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Intellectual Developmental Disorder, Autosomal Dominant 45	Heart murmur, Pulmonic stenosis	OMIM:617600
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
7Q11.23 Microduplication Syndrome	Atrial septal defect, Aortic valve stenosis, Ventricular septal defect	ORPHA:96121
Watson Syndrome	Neurofibroma, Pulmonic stenosis, Lisch nodules	OMIM:193520
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Rhizomelic Syndrome, Urbach Type	Pulmonic stenosis	ORPHA:3098
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Cardiofaciocutaneous Syndrome 4	Ventricular septal hypertrophy, Hemangioma, Abnormal aortic valve morphology, Pulmonic stenosis	OMIM:615280
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis, ...	ORPHA:536471
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Mitral regurgitation, Tricu...	OMIM:601776
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Abnormal heart morphology, Mitral regurgitation, Pulmo...	ORPHA:284984
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Frontometaphyseal Dysplasia 2	Patent foramen ovale, Bicuspid aortic valve, Pulmonic stenosis	OMIM:617137
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Mend Syndrome	Aortic valve stenosis	OMIM:300960
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure	ORPHA:90037
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis	OMIM:616719
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Internal hemo...	ORPHA:99827
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hajdu-Cheney Syndrome	Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splenomegaly, Aortic valve stenosis	ORPHA:955
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Atypical Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Aortic valve calcification, Congestive heart failure,...	ORPHA:79474
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun...	OMIM:616050
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ...	ORPHA:3426
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve...	OMIM:139210
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ...	ORPHA:536545
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Pitt-Hopkins-Like Syndrome 2	Pulmonic stenosis	OMIM:614325
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,...	ORPHA:97214
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral regurgitation	OMIM:271640
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Abnormal cardiac septum morphology, First degree atrioventricular block	ORPHA:589821
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart	ORPHA:2308
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia	OMIM:620296
Ogden Syndrome	Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal...	OMIM:300855
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Okamoto Syndrome	Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal...	ORPHA:2729
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Cholesteryl Ester Storage Disease	Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis	ORPHA:75234
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp...	OMIM:201475
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction...	ORPHA:268
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Tetralo...	ORPHA:3304
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:613355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous v...	OMIM:612474
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Ventricular septal defect, Testicular neoplasm, Intraventricular hemorrhag...	ORPHA:363958
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ...	ORPHA:77259
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Mitral regu...	ORPHA:90348
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Hypertension, Mitral regurgitation, ...	OMIM:220111
Cenani-Lenz Syndactyly Syndrome	Pulmonic stenosis	OMIM:212780
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar...	ORPHA:500
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive hea...	ORPHA:465508
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse	OMIM:609192
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	ORPHA:42
Macrophage Activation Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Congestive heart failure,...	OMIM:619475
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Turnpenny-Fry Syndrome	Atrial septal defect, Aortic regurgitation, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:618371
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr...	ORPHA:85212
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valve prolapse, Pu...	OMIM:300166
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th...	ORPHA:290
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Gonadoblastoma, Cervix cancer	ORPHA:1772
Zttk Syndrome	Atrial septal defect, Ventricular septal defect, Aortic regurgitation	OMIM:617140
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce...	OMIM:602782
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Felty Syndrome	Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocell...	ORPHA:47612
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Pulmonic stenosis	OMIM:614300
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Pulmonic stenosis	OMIM:618282
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Lentigo maligna melanoma, Pulmonic stenosis	OMIM:613706
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Fabry Disease	Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori...	ORPHA:324
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis	OMIM:228000
Encephalocraniocutaneous Lipomatosis	Astrocytoma, Ventricular septal defect, Lipoma, Subvalvular aortic stenosis, Atrial septal defect...	OMIM:613001
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Pulmonic stenosis	ORPHA:1131
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia	ORPHA:99745
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic...	OMIM:616564
Immunodeficiency 44	Lymphopenia	OMIM:616636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Cogan Syndrome	Aortic regurgitation, Vasculitis, Large vessel vasculitis	ORPHA:1467
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:352665
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Mitral regurgitation, Hepatosplenomegaly	ORPHA:309282
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pilomatrixoma, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Pilomatrixoma, ...	ORPHA:353277
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonic stenosis, Atrial septal defect, P...	OMIM:608149
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Tri...	OMIM:619534
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:619123
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Papilloma, Pulmonic stenosis, Hypertrophic card...	ORPHA:3071
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Pulmonic stenosis	OMIM:618914
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Abnormal heart morphology, ...	OMIM:612289
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm...	OMIM:214500
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Visceral angiomatosis...	ORPHA:666
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul...	OMIM:619657
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morph...	ORPHA:565612
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Intellectual Developmental Disorder, Autosomal Dominant 43	Pulmonic stenosis	OMIM:616977
Viss Syndrome	Exostosis of the external auditory canal, Epidural hemorrhage, Ventricular septal defect, Coronar...	OMIM:619472
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anemia, Leukopenia, Hypotension, Th...	ORPHA:91547
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytope...	OMIM:613179
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Cardiomegaly	OMIM:619259
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Tangier Disease	Left ventricular hypertrophy, Hepatomegaly, Myocardial infarction, Splenomegaly	OMIM:205400
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly	ORPHA:158687
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Vacuolated...	OMIM:230500
Cranioectodermal Dysplasia 1	Hepatomegaly, Bicuspid aortic valve	OMIM:218330
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal...	ORPHA:100078
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Bicuspid aortic valve, Myocardial infarction, Partial anomalous pulmonary venous ...	OMIM:150230
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Mit...	OMIM:613795
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy...	OMIM:300842
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, A...	ORPHA:438213
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Noonan Syndrome 4	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:610733
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardiomyopathy, Congestive heart...	OMIM:615895
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Mitral valve prolapse, Hyp...	OMIM:194050
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Pu...	ORPHA:71493
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block	OMIM:616479
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp...	ORPHA:88
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality...	ORPHA:464329
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic...	OMIM:605275
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr...	ORPHA:137605
Monosomy 13Q34	Hematochezia, Common atrium, Epistaxis, Pulmonic stenosis	ORPHA:96168
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure...	ORPHA:508542
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules	OMIM:139090
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Melanoma, Hypo...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Melanoma, Hypo...	ORPHA:99228
Monosomy X	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Melanoma, Hypo...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Bicuspid aortic valve, Myocardial infarction, Hypertension, Melanoma, Hypo...	ORPHA:881
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ...	OMIM:613812
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Decreas...	ORPHA:90362
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo...	OMIM:607872
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis...	ORPHA:466677
3P25.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Corneal neovasculariz...	OMIM:617388
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy	OMIM:252900
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Mitral valve prolapse, Pulmonic sten...	OMIM:609942
Loeys-Dietz Syndrome 2	Atrial septal defect, Bicuspid pulmonary valve, Bicuspid aortic valve, Mitral valve prolapse	OMIM:610168
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c...	OMIM:617099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia	OMIM:608013
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Multiple muscular ventricular septal defects, Pulmonic stenosis	OMIM:615508
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block	ORPHA:254361
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop...	ORPHA:91138
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Ventricular septal defect, Abnormal left ventricular function, Pulmonic stenosis, D...	OMIM:301056
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen...	ORPHA:781
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha...	ORPHA:540
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Mediastinal lymphadeno...	ORPHA:809
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Subvalvular aortic stenosis	ORPHA:65286
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ...	OMIM:615688
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Abnormality of the liver, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:615802
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertroph...	ORPHA:79330
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphad...	OMIM:603553
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri...	ORPHA:3474
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Leopard Syndrome 1	Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ...	OMIM:151100
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil...	ORPHA:3260
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Pulmonary insufficiency, Ventricular septal hypertrophy	OMIM:619322
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Pulmonary arterial hypertension	OMIM:612387
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Neutrophilia, Abscess	OMIM:612852
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma...	ORPHA:1572
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb...	OMIM:153670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Lymphopenia	OMIM:605309
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Hepatomegaly, Atrial septal defect, Bundle branch block, Ventricular septa...	ORPHA:373
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Abnormal myocardi...	ORPHA:228308
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Friedreich Ataxia 2	Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge...	OMIM:601992
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Microphthalmia, Syndromic 9	Ventricular septal defect, Hypoplastic left atrium, Pulmonic stenosis, Atrial septal defect, Trun...	OMIM:601186
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Enlarged kidney, Antenatal intrac...	OMIM:608836
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Microangiopat...	ORPHA:93552
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Splenomegaly, Leukocytosis, Jaundice, Anemia, Bradycardia, Hypotension...	ORPHA:90051
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Carpenter Syndrome 1	Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, Atrial septal ...	OMIM:201000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen...	ORPHA:2137
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Raynaud phenomenon, Paratracheal lymphadenopathy, Telangiectasia, Leukope...	OMIM:615934
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet...	OMIM:608233
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Fucosidosis	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:230000
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ...	ORPHA:56
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Neurofibroma, Lisch nodules, Plexiform neurofibroma, Pulmonic sten...	OMIM:601321
Brittle Cornea Syndrome	Pulmonic stenosis, Mitral valve prolapse	ORPHA:90354
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis	OMIM:300867
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Hepatitis, Ne...	ORPHA:391487
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Schwannoma, Ossifying fibroma, Abnormal heart morphology, Mitral valve...	ORPHA:363700
Hermansky-Pudlak Syndrome 10	Splenomegaly, Hepatomegaly, Neutropenia	OMIM:617050
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Leukocytosis, Leukopenia, Hypotension	ORPHA:36238
Acute Radiation Syndrome	Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia	ORPHA:454831
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cholest...	OMIM:300972
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension	OMIM:620365
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary...	OMIM:614008
Cerebrofacioarticular Syndrome	Pulmonic stenosis, Abnormal heart morphology	ORPHA:314679
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Total absence of t...	OMIM:600001
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Abnormal heart morphology, Pulmonic s...	ORPHA:261537
Atelis Syndrome 2	Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Heart block, Conges...	ORPHA:185
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Biliary ci...	OMIM:613471
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Pericardial effusion, Thrombocytopenia, S...	ORPHA:167
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Glabellar hemangioma, Double outlet right ventricle, Pulmonic stenosis	OMIM:618223
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Right bundle branch block, Mitral regurgitati...	OMIM:617506
Mosaic Variegated Aneuploidy Syndrome 1	Embryonal rhabdomyosarcoma, Leukemia, Pulmonic stenosis, Atrial septal defect, Nephroblastoma	OMIM:257300
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hypertension, Hepatocellular carcin...	OMIM:232220
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ...	OMIM:615512
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu...	ORPHA:3243
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega...	ORPHA:50918
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Lymphopenia, Thro...	ORPHA:319218
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Hyphema, A...	ORPHA:261552
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Pulmonic stenosis	OMIM:618343
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Cardiomegaly	ORPHA:2463
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per...	OMIM:263200
Mowat-Wilson Syndrome	Bicuspid aortic valve, Abnormal heart morphology, Abnormal cardiac septum morphology, Pulmonic st...	ORPHA:2152
Degcags Syndrome	Hepatomegaly, Tachycardia, Ventricular septal defect, Hepatosplenomegaly, Pulmonic stenosis, Atri...	OMIM:619488
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Pulmonic stenosis	OMIM:619148
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Cardiomyopathy, Gon...	OMIM:130650
Vici Syndrome	Atrial septal defect, Congestive heart failure, Decreased proportion of CD4-positive helper T cel...	OMIM:242840
Takenouchi-Kosaki Syndrome	Abnormal cardiac septum morphology, Pulmonic stenosis	OMIM:616737
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve...	ORPHA:365
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Cavernous hemangioma, Pulmonic stenosis, Atrial septal defect, H...	ORPHA:1340
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Atrioventricular bl...	ORPHA:581
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Recurrent intrapulmonary hemorrhage, Epistaxis,...	ORPHA:906
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Splenomegaly, Leukocytosis, Peritonitis, Vasculitis, Lymphadenopathy, Abnormal myoc...	ORPHA:32960
Toriello-Carey Syndrome	Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis	ORPHA:3338
Lujo Hemorrhagic Fever	Shock, Myocarditis, Leukocytosis, Fulminant hepatitis, Subconjunctival hemorrhage, Leukopenia, Br...	ORPHA:319213
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Lung abscess, Hypersplenism...	ORPHA:1304
Alkaptonuria	Aortic valve calcification, Mitral valve calcification	OMIM:203500
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,...	OMIM:619991
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis	OMIM:614609
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Cavernous hemangioma, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiom...	OMIM:115150
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,...	ORPHA:171
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Congestive heart failure, Hepatic fi...	ORPHA:14
Pearson Syndrome	Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Cardiac conduction abnormality,...	ORPHA:699
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Whim Syndrome	Lymphadenitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia, Lymphopenia	ORPHA:51636
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor...	ORPHA:97685
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Bohring-Opitz Syndrome	Cardiomegaly, Medulloblastoma, Abnormal cardiac septum morphology, Bradycardia, Nephroblastoma	ORPHA:97297
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia,...	OMIM:222700
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Macronodular c...	OMIM:620005
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr...	ORPHA:228119
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Pan...	OMIM:276700
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Pallister-Killian Syndrome	Atrial septal defect, Hypertrophic cardiomyopathy, Aortic valve stenosis, Ventricular septal defect	OMIM:601803
Marburg Hemorrhagic Fever	Shock, Reticulocytosis, Pericarditis, Tachycardia, Jaundice, Internal hemorrhage, Neutrophilia in...	ORPHA:99826
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Atrial septal defec...	OMIM:617403
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Proximal Renal Tubular Acidosis	Hypovolemia, Subvalvular aortic stenosis	ORPHA:47159
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Lymphadenopathy, Arrh...	ORPHA:342
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Ventricular septal defect, Acute lymphoblastic leukemia, Transposition of the great...	OMIM:280000
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Chron...	ORPHA:51
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp...	ORPHA:731
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Bladder carcinoma, Mitral valve prolapse, Vestibular...	OMIM:218040
Hennekam Syndrome	Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Ascites, Lymphan...	ORPHA:2136
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin...	ORPHA:116
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Congestive heart failure, Lymphadeno...	OMIM:256040
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Jaundice, Leuk...	ORPHA:99829
Wiedemann-Rautenstrauch Syndrome	Congenital malformation of the left heart, Dysplastic pulmonary valve, Pulmonic stenosis	ORPHA:3455
Microphthalmia, Syndromic 1	Bicuspid aortic valve	OMIM:309800
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Ventricular septal defect, Pulmonic stenosis, Atrial septal def...	OMIM:163950
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,...	ORPHA:3472
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Peters Plus Syndrome	Abnormal cardiac septum morphology, Bicuspid pulmonary valve, Hypoplastic left heart, Pulmonic st...	ORPHA:709
Arboleda-Tham Syndrome	Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:616268
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Nephroblastoma, Hepatoblastoma, Splenomegaly, Cardiomyop...	OMIM:312870
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Portal hypertension, Muscular ventricular septal defec...	OMIM:619503
Mowat-Wilson Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Abnormal heart morphology	OMIM:235730
Charge Syndrome	Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplastic tricuspid ...	OMIM:214800
Peters-Plus Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:261540
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656

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 Plce1

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 Plce1.

No publications found that use IMPC mice or data for Plce1.

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MGI Allele	Allele Type	Produced
Plce1^{tm458995(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Plce1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Plce1 MGI:1921305

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Plce1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data