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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
enlarged heart	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased lymphocyte cell number	Plce1^em1(IMPC)Mbp	HOM	Early adult	1.79×10^-05
enlarged spleen	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
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
increased monocyte cell number	Plce1^em1(IMPC)Mbp	HOM	Early adult	8.05×10^-07
prolonged QRS complex duration	Plce1^em1(IMPC)Mbp	HOM	Early adult	9.82×10^-05
abnormal heart morphology	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Plce1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Plce1^em1(IMPC)Mbp	HOM	Early adult	2.83×10^-09

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 Dorso Ventral

120 Images

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X-ray

XRay Images Whole Body Lateral Orientation

60 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 (995 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	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr...	OMIM:614980
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct...	OMIM:607941
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se...	OMIM:617912
Atrial Fibrillation, Familial, 13	Left atrial enlargement, Aortic valve stenosis, Paroxysmal atrial fibrillation	OMIM:615377
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart	OMIM:241550
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Cardiac Valvular Dysplasia, X-Linked	Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T...	OMIM:314400
Loeffler Endocarditis	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa...	ORPHA:75566
Chronic Atrial And Intestinal Dysrhythmia	Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P...	OMIM:616201
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio...	OMIM:619897
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent...	ORPHA:2041
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale	OMIM:247610
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu...	ORPHA:3092
Williams-Beuren Syndrome (WBS)	Aortic valve stenosis	DECIPHER:3
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Dysplastic aortic valve, Tricuspid r...	OMIM:620067
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve	OMIM:615599
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Weill-Marchesani Syndrome	Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis	ORPHA:3449
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification	OMIM:114065
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Polyvalvular Heart Disease Syndrome	Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi...	ORPHA:228410
Grange Syndrome	Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus	ORPHA:79094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy	OMIM:615981
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr...	ORPHA:99105
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aortic v...	OMIM:615382
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Partial Atrioventricular Septal Defect	Atrial flutter, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Angina pectoris, B...	ORPHA:1330
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension	OMIM:614475
Weill-Marchesani Syndrome 3	Pulmonic stenosis, Aortic valve stenosis	OMIM:614819
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Ethanolaminosis	Cardiomegaly	OMIM:227150
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus	ORPHA:228190
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Right Ventricular Hypoplasia, Isolated	Hypoplasia of right ventricle	OMIM:277200
Aortic Valve Disease 2	Aortic regurgitation, Patent foramen ovale, Pulmonic stenosis, Aortic valve stenosis, Bicuspid ao...	OMIM:614823
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Pulmonic Stenosis And Deafness	Pulmonic stenosis, Ventricular hypertrophy	OMIM:178651
Congenital Aortic Valve Stenosis	Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ...	ORPHA:3093
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr...	OMIM:616501
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Patent ductus arteriosus	OMIM:604381
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Aortic Aneurysm, Familial Thoracic 12	Bicuspid aortic valve, Aortic regurgitation	OMIM:619825
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Mitral regurgitation, Aortic regurgitation, Mitral valve prolapse	OMIM:225320
Periventricular Nodular Heterotopia	Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteriosus	ORPHA:98892
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertroph...	OMIM:619705
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,...	ORPHA:555877
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation	ORPHA:401923
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Scheie Syndrome	Aortic valve stenosis, Mitral stenosis, Aortic regurgitation	OMIM:607016
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia	OMIM:616871
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ...	OMIM:618845
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v...	ORPHA:1457
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Marfanoid Habitus With Situs Inversus	Pulmonic stenosis, Situs inversus totalis, Aortic regurgitation, Mitral valve prolapse	OMIM:609008
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:300049
Familial Bicuspid Aortic Valve	Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Hypertension, Aortic va...	ORPHA:402075
Aortic Aneurysm, Familial Thoracic 4	Bicuspid aortic valve, Abnormal left ventricular function, Aortic regurgitation, Patent ductus ar...	OMIM:132900
Sneddon Syndrome	Bicuspid aortic valve, Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve	ORPHA:397951
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor...	ORPHA:2299
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia	ORPHA:1479
Singleton-Merten Syndrome 2	Aortic valve stenosis, Arrhythmia, Aortic valve calcification	OMIM:616298
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Stiff Skin Syndrome	Bicuspid aortic valve	OMIM:184900
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Craniosynostosis 1	Aortic valve stenosis, Systolic heart murmur	OMIM:123100
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Retinitis Pigmentosa 89	Bicuspid aortic valve, Hepatosplenomegaly	OMIM:618955
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Atrial septal defect	OMIM:617744
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d...	ORPHA:99094
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy...	OMIM:614954
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic...	ORPHA:99147
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear...	ORPHA:216694
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Patent ductus arteriosus	OMIM:220220
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventric...	OMIM:612863
Lessel-Kreienkamp Syndrome	Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ...	OMIM:619149
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Gaucher Disease, Type I	Hepatomegaly, Hypertension, Pulmonary arterial hypertension, Multiple myeloma, Aortic valve steno...	OMIM:230800
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Ritscher-Schinzel Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr...	OMIM:220210
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Partial atrioventricular canal defe...	OMIM:620066
Developmental And Epileptic Encephalopathy 18	Atrial septal defect, Aortic regurgitation	OMIM:615476
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Intellectual Developmental Disorder, X-Linked 106	Bicuspid aortic valve	OMIM:300997
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Mucolipidosis Iii Gamma	Aortic valve stenosis, Aortic regurgitation	OMIM:252605
Pericardial And Diaphragmatic Defect	Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp...	ORPHA:2847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspid regurgitation, Patent ...	ORPHA:1120
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus, ...	ORPHA:284169
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v...	ORPHA:210122
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation, Patent ductus arteriosus	ORPHA:229
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Thickened aortic valve cusp, Aortic regurgitation, Left ventricular hypert...	OMIM:619698
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Right ventricular hypertrophy	OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Pulmonic stenosis	OMIM:614224
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ...	ORPHA:1686
Pierre Robin Syndrome	Cor pulmonale	OMIM:261800
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo...	OMIM:615415
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega...	OMIM:619644
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Aortic valve stenosis, Joint hemorrhage, Epistaxis, Mitral valve pro...	OMIM:193400
Whim Syndrome 2	Chronic neutropenia, Tetralogy of Fallot	OMIM:619407
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:249670
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve	OMIM:619318
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
D-2-Hydroxyglutaric Aciduria 1	Cardiomyopathy, Aortic regurgitation	OMIM:600721
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Cardiomegaly...	ORPHA:363705
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Pulmonic stenosis, Aortic valve stenosis	ORPHA:75496
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmo...	OMIM:619433
Familial Atrial Myxoma	Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon...	ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus	OMIM:243310
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo...	OMIM:615009
Coenzyme Q10 Deficiency, Primary, 2	Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension	OMIM:614651
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Pulmonary arterial hypertension, Aortic valve stenosis, Mitral ...	OMIM:614185
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
3-Methylglutaconic Aciduria, Type Iv	Biventricular hypertrophy, Subvalvular aortic stenosis	OMIM:250951
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Cantu Syndrome	Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle, Patent duc...	OMIM:239850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Atrial septal defect, Mitral stenosis, Hypoplastic left heart	OMIM:617660
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Meckel Syndrome, Type 7	Situs inversus totalis, Portal hypertension, Aortic valve stenosis, Hepatosplenomegaly, Right ven...	OMIM:267010
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye...	ORPHA:70591
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Supravalvular Aortic Stenosis	Pulmonic stenosis, Supravalvular aortic stenosis	OMIM:185500
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Pulmonic stenosis, Abnormal m...	ORPHA:7
Isotretinoin-Like Syndrome	Abnormal cardiac ventricle morphology, Aortic valve stenosis, Patent ductus arteriosus, Bicuspid ...	ORPHA:2306
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Cardiac-Valvular Ehlers-Danlos Syndrome	Pulmonary insufficiency, Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgi...	ORPHA:230851
Hengel-Maroofian-Schols Syndrome	Bicuspid aortic valve	OMIM:619641
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,...	ORPHA:500159
Metachondromatosis	Pulmonic stenosis, Multiple exostoses, Multiple digital exostoses, Multiple enchondromatosis	OMIM:156250
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Basal cell carcinoma, Ventricular hypertrophy, Hypertension, Squamous c...	ORPHA:363618
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi...	OMIM:619802
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out...	ORPHA:2326
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, T lymphocytopenia	DECIPHER:16
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca...	OMIM:614473
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Abnormal ca...	ORPHA:96147
8P23.1 Duplication Syndrome	Pulmonic stenosis, Exostoses, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary...	OMIM:612541
Aneurysm Of Sinus Of Valsalva	Bacterial endocarditis, Aortic regurgitation, Congestive heart failure, Heart murmur	ORPHA:1054
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f...	OMIM:619343
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L...	OMIM:108900
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Mucolipidosis Type Iii Alpha/Beta	Congestive heart failure, Mitral regurgitation, Aortic regurgitation, Right ventricular hypertrophy	ORPHA:423461
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus	OMIM:617751
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse	ORPHA:2868
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG	OMIM:178650
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Cardiomegaly, Aortic regurgitation, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Antisynthetase Syndrome	Myocarditis, Aortic regurgitation, Pulmonary arterial hypertension, Telangiectasia of the skin, N...	ORPHA:81
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left...	OMIM:618619
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c...	ORPHA:75565
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Arrhythmia, Atrial septal defect, Ventricular septal defect, Mitral regurgi...	ORPHA:254346
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Left Ventricular Noncompaction 1	Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact...	OMIM:604169
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Reduced left ventricular ejection fraction, Congestive heart failure, Hypertrophic ...	OMIM:614096
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart	OMIM:619721
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent...	ORPHA:329224
Emanuel Syndrome	Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se...	OMIM:609029
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Contractural Arachnodactyly, Congenital	Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ven...	OMIM:121050
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Atrial septal defect	ORPHA:459061
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis	OMIM:264140
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	OMIM:618027
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Noonan Syndrome 14	Pulmonic stenosis, Hypertrophic cardiomyopathy, Aortic regurgitation, Mitral valve prolapse	OMIM:619745
Monosomy 18Q	Congestive heart failure, Pulmonary valve defects, Dysplastic pulmonary valve, Absence of the pul...	ORPHA:1600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg...	ORPHA:860
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly...	OMIM:620565
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation	ORPHA:2181
Weill-Marchesani Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect, Mi...	OMIM:277600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal...	ORPHA:371428
Mandibulofacial Dysostosis With Alopecia	Bicuspid aortic valve	OMIM:616367
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Aortic regurgitation	OMIM:614114
Rhizomelic Syndrome	Pulmonic stenosis	OMIM:268250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Arterial Tortuosity Syndrome	Ischemic stroke, Aortic regurgitation, Ventricular hypertrophy, Hypertension, Aortic valve stenos...	OMIM:208050
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous...	ORPHA:3097
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614262
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Grange Syndrome	Bicuspid aortic valve, Renovascular hypertension, Coronary artery stenosis	OMIM:602531
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pancytopenia, Abnormal...	ORPHA:398124
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Chylopericardium, Tricuspid regurgitation, Pulmonary arte...	ORPHA:2414
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Meningioma, Mitral valve prolapse, Patent ductus arteriosus, ...	OMIM:611962
Trisomy 17P	Aortic valve stenosis, Patent ductus arteriosus, Hypoplastic left heart	ORPHA:261290
Chromosome 18Q Deletion Syndrome	Congestive heart failure, Dysplastic pulmonary valve, Absence of the pulmonary valve, Dysplastic ...	OMIM:601808
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Aortic Aneurysm, Familial Thoracic 10	Bicuspid aortic valve, Mitral regurgitation, Left ventricular hypertrophy	OMIM:617168
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Hamartoma of tongue, Subvalvular aortic stenosis, Benign neoplasm of the central nervous system, ...	ORPHA:1338
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve	OMIM:614501
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Overriding aorta, Atrial ...	ORPHA:477817
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Emanuel Syndrome	Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se...	ORPHA:96170
Gray Platelet Syndrome	Epistaxis, Thrombocytopenia, Splenomegaly	ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Diamond-Blackfan Anemia 11	Bicuspid aortic valve	OMIM:614900
Sarcosinemia	Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:3129
Congenital Gerbode Defect	Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf...	ORPHA:99095
Muscle Filaminopathy	Left ventricular diastolic dysfunction, Right bundle branch block, Cardiomyopathy, Left ventricul...	ORPHA:171445
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep...	OMIM:618652
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Hepatomegaly, Mitral regurgitation	OMIM:253010
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal heart valve morp...	ORPHA:3384
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Ventricular septal defect, Mitral regurgitation, Aortic regurgitation	OMIM:123700
Syndromic Diarrhea	Hepatomegaly, Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Splenomegaly,...	ORPHA:84064
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:620511
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic ...	OMIM:613313
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Cardiomyopathy, Aortic regurgitation, Severely reduced left ventricular ejection fr...	OMIM:252600
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce...	OMIM:603903
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Left anterior fascicular block, Reduced left ventricular ejection fraction, Interstitial cardiac ...	OMIM:181350
Mucolipidosis Type Ii	Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic regurgitation, Patent foramen o...	ORPHA:576
Congenital Disorder Of Glycosylation, Type Iif	Pulmonary hemorrhage, Aortic regurgitation	OMIM:603585
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Aortic valve stenosis, Dou...	OMIM:615067
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle	OMIM:616652
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega...	OMIM:256550
Squalene Synthase Deficiency	Bicuspid aortic valve	OMIM:618156
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Intestinal polyposis, Aortic regurgitation, Stomach cancer, Vaginal neoplasm, A...	ORPHA:1052
Adams-Oliver Syndrome 1	Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Tetralog...	OMIM:100300
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Aortic valve stenosis, Hepatosplenomegaly, Splenomegaly, Bicusp...	OMIM:613563
Sandhoff Disease	Congestive heart failure, Hepatomegaly, Splenomegaly	ORPHA:796
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Cardiomegaly, Congenital ...	OMIM:618886
Anauxetic Dysplasia 1	Aortic valve stenosis	OMIM:607095
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c...	OMIM:619051
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Noonan Syndrome 11	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:618499
Hurler Syndrome	Hepatomegaly, Aortic regurgitation, Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Mitral regu...	OMIM:607014
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Cirrhotic Cardiomyopathy	Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart...	ORPHA:57777
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis	ORPHA:2780
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran...	ORPHA:1880
Branchial Arch Syndrome, X-Linked	Pulmonic stenosis	OMIM:301950
Hurler-Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Pulmonary arterial hypertension, Splenomegaly, Mitral regurgi...	OMIM:607015
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal heart morphology, Dilatation of the ventricular cavity, Aortic regurgitation, Mitral val...	ORPHA:85438
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila...	OMIM:602390
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Scheie Syndrome	Splenomegaly, Hepatomegaly, Aortic regurgitation	ORPHA:93474
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Mungan Syndrome	Perimembranous ventricular septal defect, Barrett esophagus, Tricuspid regurgitation, Pulmonic st...	OMIM:611376
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Abnormal left ventricular outflow tract morp...	ORPHA:79328
Diamond-Blackfan Anemia 21	Osteosarcoma, Secundum atrial septal defect, Aortic regurgitation	OMIM:620072
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Bicuspid aortic valve	OMIM:176690
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Bicuspid aortic valve, Atrial septal defect	OMIM:619720
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hemangioma, Atrial septal d...	OMIM:607721
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Portal hypertension, Aortic valve stenosis...	OMIM:208540
X Small Rings	Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect	ORPHA:96201
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ven...	ORPHA:457279
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va...	OMIM:308240
Temtamy Syndrome	Aortic regurgitation	OMIM:218340
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve	OMIM:300958
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Asci...	OMIM:235200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Timothy Syndrome	Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral...	OMIM:601005
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo...	OMIM:608978
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul...	OMIM:224700
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Hemochromatosis, Type 3	Cirrhosis, Anemia, Cardiomyopathy, Lymphopenia, Neutropenia	OMIM:604250
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Hypertrophic cardiomyopathy	ORPHA:638
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Mitral atresia, Aortic regurgitation, Abnormal cardiac septum morphology	ORPHA:140952
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy	ORPHA:206559
Robinow Syndrome, Autosomal Recessive 2	Bicuspid aortic valve	OMIM:618529
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Capillary hemangioma, Neoplasm of the skeletal system, Pulmonary arteri...	ORPHA:2396
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Weill-Marchesani Syndrome 2	Congestive heart failure, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Ven...	OMIM:608328
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Biliary tract abnormality, Spleno...	ORPHA:79301
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Trichohepatoenteric Syndrome 1	Hepatomegaly, Aortic regurgitation, Pulmonic stenosis, Tetralogy of Fallot, Splenomegaly, Ventric...	OMIM:222470
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia	OMIM:620282
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Aortic regurgitation	OMIM:609460
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia	OMIM:121300
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary...	OMIM:620642
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Hepatosplenomegaly, Splenomegaly, He...	OMIM:614866
Noonan Syndrome 2	Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Hypertrophic cardiomyopathy,...	OMIM:605275
Alkaptonuria	Abnormal heart valve morphology, Hypertension, Mitral valve calcification, Aortic valve stenosis,...	ORPHA:56
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric...	OMIM:610759
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly...	OMIM:212140
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus	ORPHA:464311
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Alpha-Mannosidosis, Adult Form	Hepatosplenomegaly, Aortic regurgitation	ORPHA:309288
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Truncus arteriosus, Neoplasm, Atrial septal defect, Ventricular septal defect	ORPHA:261330
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Koolen-De Vries Syndrome	Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric...	OMIM:610443
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar...	OMIM:300257
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Ventricular hypertrophy, Tricuspid stenosis, Pulmonary arterial hypertensio...	OMIM:143095
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension	OMIM:619064
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Left ventricular outflow tract obstruction, Total anomalous ...	OMIM:613854
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Kleefstra Syndrome	Bicuspid aortic valve, Ventricular septal defect, Tetralogy of Fallot, Arrhythmia	ORPHA:261494
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Supravalvar pulmonary stenosis, Aortic valve stenosis, Mitral atresia, ...	OMIM:618164
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Hypertrophic cardi...	OMIM:252500
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:608540
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma...	ORPHA:1677
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti...	OMIM:620609
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Aortic regurgitation, Tr...	ORPHA:508498
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Vent...	OMIM:620654
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia	ORPHA:3191
Geleophysic Dysplasia 1	Congestive heart failure, Hepatomegaly, Tricuspid stenosis, Pulmonary arterial hypertension, Aort...	OMIM:231050
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac...	ORPHA:98826
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cen...	ORPHA:277
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Thrombocytopenia, Leukop...	ORPHA:108
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:620010
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus	ORPHA:464306
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Koolen-De Vries Syndrome	Bicuspid aortic valve, Abnormal cardiac septum morphology	ORPHA:96169
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomega...	OMIM:253250
Noonan Syndrome 12	Tetralogy of Fallot, Thrombocytopenia, Lymphopenia, Ventricular septal defect, Supravalvular aort...	OMIM:618624
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Atrial fibrillation, Ebstein anomaly of the tricuspid valve, Left ventr...	OMIM:611878
Lateral Meningocele Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus	OMIM:130720
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Aortic regurgitation, Mitral annular calcific...	OMIM:154700
Noonan Syndrome 8	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypert...	OMIM:615355
Congenital Heart Defects, Multiple Types, 7	Pulmonic stenosis, Absence of the pulmonary valve, Tetralogy of Fallot	OMIM:618780
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Systemic Lupus Erythematosus 17	Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune th...	OMIM:301080
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Abnormal platelet morphology, Splenomega...	ORPHA:3318
Congenital Heart Defects, Multiple Types, 9	Left axis deviation, Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, ...	OMIM:620294
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Hamartoma of tongue, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Valvular pulmonary stenosis	OMIM:300707
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Frontoocular Syndrome	Pulmonic stenosis, Atrial septal defect, Capillary hemangioma, Glabellar hemangioma	OMIM:605321
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp...	OMIM:602450
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Immunodeficiency 95	Lymphopenia	OMIM:619773
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Atrial septal defect	OMIM:619239
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Partial anomalous...	OMIM:265380
Amyloidosis, Familial Visceral	Hypertension, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Abnormal aortic valve morphology, Aortic regurgitation, An...	ORPHA:740
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Vasculitis, Cerebral ischemia, Pericarditis, A...	ORPHA:117
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi...	OMIM:616028
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alv...	ORPHA:99931
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Mitral stenosis, Subvalvular aortic stenosis	OMIM:619461
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia	OMIM:266500
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, R...	OMIM:614437
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Fish-Eye Disease	Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation	OMIM:616603
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Pilomatrixoma, Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morpho...	ORPHA:353281
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology	ORPHA:401973
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal de...	ORPHA:453499
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Tricuspid regurgitation, M...	OMIM:617402
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l...	ORPHA:158057
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Periportal f...	ORPHA:64743
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pulmonic stenosis, Abnormal pulmonary valve morphology	ORPHA:137634
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Reactive Arthritis	Pericarditis, Aortic regurgitation	ORPHA:29207
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Mitral valve prolapse	OMIM:614816
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
2P15P16.1 Microdeletion Syndrome	Mitral regurgitation, Aortic regurgitation	ORPHA:261349
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	ORPHA:96121
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S...	OMIM:620632
Distal Deletion 15Q	Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ventricle with doubly commi...	ORPHA:1596
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Patent ductus arteriosus, Atrial fibrillation, Pulmonic stenosis, Abnormal ...	ORPHA:284984
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Aortic valve stenosis, Abnormal heart morphology, Ventricular septal defect...	ORPHA:268261
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Tricuspid valve prolapse, Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, A...	OMIM:601776
Intellectual Developmental Disorder, X-Linked 112	Bicuspid aortic valve, Abnormal heart morphology	OMIM:301111
Hajdu-Cheney Syndrome	Hepatomegaly, Aortic valve stenosis, Mitral stenosis, Splenomegaly, Patent ductus arteriosus, Ven...	ORPHA:955
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia	ORPHA:90037
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Aortic valve stenosis, Exostoses, Atrial sept...	ORPHA:536471
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Mend Syndrome	Aortic valve stenosis	OMIM:300960
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hepatic fibrosis,...	OMIM:616589
Myhre Syndrome	Hypertension, Aortic valve stenosis, Pericardial effusion, Patent ductus arteriosus, Atrial septa...	OMIM:139210
Frontometaphyseal Dysplasia 2	Pulmonic stenosis, Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus	OMIM:617137
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv...	ORPHA:99827
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Atypical Werner Syndrome	Neoplasm of the oral cavity, Congestive heart failure, Neoplasm of the thyroid gland, Renal neopl...	ORPHA:79474
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura...	OMIM:616050
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon...	OMIM:208530
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Cutis Laxa, Autosomal Recessive, Type Ia	Supravalvular aortic stenosis, Aortic regurgitation	OMIM:219100
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis...	OMIM:616216
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Aortic re...	ORPHA:558
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Chromosome 2Q37 Deletion Syndrome	Subvalvular aortic stenosis, Arrhythmia	OMIM:600430
Eisenmenger Syndrome	Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Rig...	ORPHA:97214
Hypophosphatemic Rickets, Autosomal Recessive, 2	Pulmonic stenosis	OMIM:613312
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Secundum atrial septal defect, Pulmonary arterial hypertension, Patent duc...	OMIM:613355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Congenital-Onset Steinert Myotonic Dystrophy	First degree atrioventricular block, Bundle branch block, Abnormal cardiac septum morphology	ORPHA:589821
Okamoto Syndrome	Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ...	ORPHA:2729
Histiocytoid Cardiomyopathy	Congestive heart failure, Atrial flutter, Hepatomegaly, Wolff-Parkinson-White syndrome, Cardiomeg...	ORPHA:137675
Jacobsen Syndrome	Aortic valve stenosis, Ventricular septal defect, Hypoplastic left heart	ORPHA:2308
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitral regurgitation	OMIM:271640
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Turnpenny-Fry Syndrome	Tricuspid valve prolapse, Aortic regurgitation, Mitral valve prolapse, Patent ductus arteriosus, ...	OMIM:618371
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, P...	ORPHA:549
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Kyphoscoliotic Ehlers-Danlos Syndrome	Dextrocardia, Cerebral hemorrhage, Bicuspid aortic valve, Antenatal intracerebral hemorrhage, Sub...	ORPHA:536545
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Thrombocytopenia, ...	ORPHA:381
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Right bundle branch block, Right ventricular hypertro...	ORPHA:268
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction	OMIM:208000
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Thromb...	OMIM:606003
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachno...	OMIM:232300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Cardiomega...	OMIM:201475
Singleton-Merten Syndrome 1	Congestive heart failure, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcifi...	OMIM:182250
Microphthalmia, Syndromic 2	Dextrocardia, Pulmonic stenosis, Aortic valve stenosis, Mitral valve prolapse, Patent ductus arte...	OMIM:300166
Loeys-Dietz Syndrome 6	Bicuspid aortic valve, Ventricular hypertrophy, Transient ischemic attack	OMIM:619656
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	ORPHA:42
Loeys-Dietz Syndrome 3	Aortic regurgitation, Patent ductus arteriosus, Atrial fibrillation, Ventricular hypertrophy, Pul...	OMIM:613795
Developmental Delay, Language Impairment, And Ocular Abnormalities	Pulmonic stenosis, Facial telangiectasia	OMIM:620141
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Ventricular septal defect	OMIM:619103
Alagille Syndrome 2	Pulmonic stenosis, Atrial septal defect, Hypertension, Tetralogy of Fallot	OMIM:610205
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Autosomal Dominant Cutis Laxa	Congestive heart failure, Dilatation of the ventricular cavity, Aortic regurgitation, Mitral regu...	ORPHA:90348
Zttk Syndrome	Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus	OMIM:617140
Koolen-De Vries Syndrome Due To A Point Mutation	Testicular neoplasm, Cardiomyopathy, Melanoma, Pulmonic stenosis, Hemangioma, Abnormal heart morp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Testicular neoplasm, Cardiomyopathy, Melanoma, Pulmonic stenosis, Hemangioma, Abnormal heart morp...	ORPHA:363958
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Congestive heart failure, Aortic regurgitation, Neurofibroma, Heart murmur, Bicuspid aortic valve...	OMIM:619475
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani...	ORPHA:85212
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Tyshchenko Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:615102
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Joubert Syndrome 33	Splenomegaly	OMIM:617767
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa...	ORPHA:169160
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mi...	OMIM:220111
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonary arterial hypertension, Pulmonic s...	OMIM:602782
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula...	ORPHA:231222
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia	ORPHA:99745
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation...	OMIM:602347
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect	ORPHA:96129
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy...	ORPHA:308552
Immunodeficiency 44	Lymphopenia	OMIM:616636
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Watson Syndrome	Pulmonic stenosis, Lisch nodules, Neurofibroma	OMIM:193520
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Cervix cancer, Bicuspid aortic valve, Gonadoblastoma	ORPHA:1772
Fabry Disease	Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Anem...	ORPHA:324
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Heart murmur	OMIM:617600
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne...	OMIM:614868
Asbestos Intoxication	Malignant mesothelioma, Right ventricular failure, Myocardial fibrosis, Lung adenocarcinoma, Cor ...	ORPHA:2302
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Double Outlet Right Ventricle	Tachycardia, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Heart murmur, Double out...	ORPHA:3426
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Patent foramen ovale, Pilomatrixoma, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Patent foramen ovale, Pilomatrixoma, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor...	ORPHA:353277
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Abnormal pulmonary valve morpholo...	ORPHA:500
Alpha-Mannosidosis, Infantile Form	Mitral regurgitation, Aortic regurgitation, Hepatosplenomegaly	ORPHA:309282
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Cogan Syndrome	Vasculitis, Large vessel vasculitis, Aortic regurgitation	ORPHA:1467
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatomegaly, Splenomegaly, Pericarditis	ORPHA:85414
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale	OMIM:263000
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Patent ductus arteriosus, Exostosis of the external au...	OMIM:619472
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Left-to-right shunt, Splenomegaly, Aortic regurgitation, Patent ...	OMIM:619534
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:352665
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ...	ORPHA:3304
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly, Arrhythmia	OMIM:255120
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia...	ORPHA:980
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Relapsing Fever	Jaundice, Anemia, Leukocytosis, Hypotension, Neutrophilia, Thrombocytopenia, Leukopenia, Epistaxi...	ORPHA:91547
Encephalocraniocutaneous Lipomatosis	Lipoma, Astrocytoma, Multiple central nervous system lipomas, Subcutaneous lipoma, Atrial septal ...	OMIM:613001
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Pitt-Hopkins-Like Syndrome 2	Pulmonic stenosis	OMIM:614325
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Cerebral hemorrhage, Mitral valve prolapse...	ORPHA:666
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Fontaine Progeroid Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Tricuspid regurgitation, Abnormal hear...	OMIM:612289
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Spontaneous, recurrent epistax...	OMIM:214500
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy	OMIM:619259
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility	ORPHA:158687
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Hereditary Spherocytosis	Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Gm1-Gangliosidosis, Type I	Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Abnormal heart valve morphology, ...	OMIM:230500
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo...	ORPHA:88
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Pulmonary arterial hypertension, Aborted sudden cardiac death, Cardiom...	OMIM:614921
Tangier Disease	Hepatomegaly, Splenomegaly, Myocardial infarction, Left ventricular hypertrophy	OMIM:205400
Noonan Syndrome 10	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral...	OMIM:616564
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Loeys-Dietz Syndrome 1	Self-healing squamous epithelioma, Bicuspid pulmonary valve, Mitral valve prolapse, Patent ductus...	OMIM:609192
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Tricuspid regurgitation	OMIM:620306
Cenani-Lenz Syndactyly Syndrome	Pulmonic stenosis	OMIM:212780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Pulmonic stenosis, Abnormal heart morphology, Patent ductus arteriosus, Bic...	ORPHA:438213
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Acanthoc...	OMIM:300842
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Hepatomegaly	OMIM:218330
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension	OMIM:268800
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymph...	OMIM:615895
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytope...	ORPHA:508542
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Williams Syndrome	Abnormal endocardium morphology, Congestive heart failure, Cardiomegaly, Supravalvular aortic ste...	ORPHA:904
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block	OMIM:616479
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se...	OMIM:619657
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Spl...	ORPHA:131
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1517
Trichorhinophalangeal Syndrome, Type Ii	Osteoma, Osteochondroma, Rib exostoses, Scapular exostoses, Right ventricular hypertrophy, Partia...	OMIM:150230
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Acute pancreatitis, Premat...	ORPHA:466677
Cardiofacioneurodevelopmental Syndrome	Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect	OMIM:619123
X-Linked Mandibulofacial Dysostosis	Pulmonic stenosis, Abnormal mitral valve morphology	ORPHA:1131
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Gray Platelet Syndrome	Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Loeys-Dietz Syndrome 2	Patent foramen ovale, Bicuspid pulmonary valve, Mitral valve prolapse, Patent ductus arteriosus, ...	OMIM:610168
Scrub Typhus	Myocarditis, Lymphadenopathy, Hypotension, Splenomegaly	ORPHA:83317
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ...	ORPHA:231214
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Pulmonic stenosis, Par...	ORPHA:137605
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Melanoma, Gonadoblastoma, Bicuspid aortic valve, Atrial sept...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Melanoma, Gonadoblastoma, Bicuspid aortic valve, Atrial sept...	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Melanoma, Gonadoblastoma, Bicuspid aortic valve, Atrial sept...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Melanoma, Gonadoblastoma, Bicuspid aortic valve, Atrial sept...	ORPHA:881
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Splenomegaly, Hypereosinop...	OMIM:617388
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Hypertension, Portal hypertension, Coronary artery stenosis...	OMIM:194050
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Leukocytosis, Neutroph...	OMIM:617099
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ...	OMIM:607872
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block	ORPHA:254361
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal left ventricular function, Vasculiti...	ORPHA:781
Caroli Disease	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato...	ORPHA:53035
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Ileal Neuroendocrine Tumor	Hypotension, Tricuspid stenosis, Small intestine carcinoid, Pulmonic stenosis, Right ventricular ...	ORPHA:100078
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec...	ORPHA:93672
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Vasculitis, Viral hepatit...	ORPHA:91138
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Mogs-Cdg	Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A...	ORPHA:79330
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Jaundice, Anemia, Hepatomegaly, Increased B cell count, Cholestasis, Leu...	OMIM:620376
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Heterotaxy, Visceral, 12, Autosomal	Situs inversus totalis, Dextrocardia, Patent ductus arteriosus, Patent foramen ovale, Double inle...	OMIM:619702
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Abnormality of the liver, Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Cor pulmonale	OMIM:215250
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Leukopenia, Sple...	OMIM:603553
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Splenomeg...	OMIM:616084
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thr...	ORPHA:540
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Vasculitis, Hypertension, Leukocytosis, Port...	OMIM:615688
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ...	OMIM:607765
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Myocardial eosinophilic infiltration, Splenomegaly, Cholangitis, Supraventricula...	ORPHA:3260
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Leukopenia, ...	OMIM:267700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Right bundle branch block, Ventricular septal hypertrophy	OMIM:619322
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension	OMIM:612387
Common Variable Immunodeficiency	Lymphadenopathy, Vasculitis, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thro...	ORPHA:1572
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly, Hepatomegaly	OMIM:612852
3Q29 Microdeletion Syndrome	Subvalvular aortic stenosis, Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:65286
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia	OMIM:605309
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Epistaxis, Stomatocytosis, Hemoly...	OMIM:153670
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Vasculiti...	ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Noonan Syndrome 3	Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Patent foramen ovale, Hypertrophic ca...	OMIM:609942
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia, Cardiomega...	ORPHA:228308
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Prolonged QT interval, Cardiomyopathy, Ventricular septal defect, Splenomegaly, Bun...	ORPHA:373
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Hepatic steatosis, Jaundice, Hepatomegaly, Atr...	OMIM:619573
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Antenatal intracerebral hemorrhage, Arrhythmia, Cardiomegaly, Dila...	OMIM:608836
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Pericardial effusion, Thrombocytopenia, Leukopenia, Raynau...	ORPHA:93552
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Raynaud phenomenon, Lymphopenia, Thrombocytosis...	OMIM:615934
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis	OMIM:618641
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Patent foramen ovale, Partial atr...	OMIM:616462
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Bradycardia, Leukocytosis, Hypotension, Thrombocytopenia, Splenom...	ORPHA:90051
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Pulmonary arterial hypertens...	ORPHA:77261
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Spider...	ORPHA:2137
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet...	OMIM:608233
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Staphylococcal Necrotizing Pneumonia	Hypotension, Leukocytosis, Neutrophilia, Leukopenia, Shock	ORPHA:36238
Cat Eye Syndrome	Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo...	OMIM:115470
Holoprosencephaly 14	Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia	OMIM:619895
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Myotonic Dystrophy 2	Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction	OMIM:602668
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary ar...	OMIM:614008
Leopard Syndrome 1	Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Bundle branch block, Third...	OMIM:151100
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis	OMIM:249100
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Acute Radiation Syndrome	Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia	ORPHA:454831
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Congenital Tracheomalacia	Patent ductus arteriosus, Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy o...	ORPHA:95430
Chime Syndrome	Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Tetralogy of Fallot...	ORPHA:3474
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Lip telangiectasia, Cholestasis, Biliary cir...	OMIM:613471
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia	OMIM:620365
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:230000
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Tricuspid regurgitatio...	OMIM:300972
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopeni...	ORPHA:319218
Scimitar Syndrome	Congestive heart failure, Heart block, Tricuspid atresia, Dextrocardia, Partial anomalous pulmona...	ORPHA:185
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis	OMIM:614204
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Tetralogy of Fallot, Bicuspi...	ORPHA:261537
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect	OMIM:301030
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Pulmonic stenosis, Abnormal heart morphology, Atrial ...	ORPHA:97360
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic ane...	OMIM:615512
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pulmonic stenosis, Aortic valve stenosis, Hyphema, Abnormal heart morphology, Tetralogy of Fallot...	ORPHA:261552
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Ascites, Portal hypertension, Hepatocellular necrosi...	OMIM:251880
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio...	OMIM:263200
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Hepatoblastoma, Gonadoblastoma, Cardiomegaly, Neph...	OMIM:130650
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis...	ORPHA:50918
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Mowat-Wilson Syndrome	Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ...	ORPHA:2152
Sweet Syndrome	Small vessel vasculitis, Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile absc...	ORPHA:3243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Congestive heart failure, B lymphocytopenia, Neutropenia in presence...	ORPHA:391487
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hypertension, Splenomegaly...	OMIM:232220
Immunodeficiency 9	Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia	OMIM:612782
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone...	OMIM:127550
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Reduced left ventricular ejection f...	ORPHA:581
Vici Syndrome	Congestive heart failure, Atrial septal defect, Cardiomyopathy, T lymphocytopenia, Left ventricul...	OMIM:242840
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Patent foramen ovale, Right bundle branch block, Hypertrophic cardiomyopathy, Tricuspid regurgita...	OMIM:617506
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Wiskott-Aldrich Syndrome	Acute leukemia, Hematemesis, Anemia, Abnormal eosinophil morphology, Vasculitis, Hypoplasia of th...	ORPHA:906
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Fulminant hepatitis, Leukocytosis, Hypotension, Thrombocytopenia, Leuko...	ORPHA:319213
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t...	OMIM:600001
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, ...	ORPHA:365
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C...	OMIM:619991
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Neuroblastoma, Plexiform neurofibroma, Secundum atrial septal defect, Optic ne...	OMIM:601321
Degcags Syndrome	Hepatomegaly, Dysplastic pulmonary valve, Patent foramen ovale, Pulmonary arterial hypertension, ...	OMIM:619488
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myoc...	ORPHA:32960
Brucellosis	Lung abscess, Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Arteritis, Abnor...	ORPHA:1304
Abetalipoproteinemia	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Hepatic...	ORPHA:14
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Pericarditis, Splenomegaly, Per...	ORPHA:342
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Pearson Syndrome	Hepatomegaly, Anemia, Pancytopenia, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity,...	ORPHA:699
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Neutropenia	ORPHA:51636
Pallister-Killian Syndrome	Hypertrophic cardiomyopathy, Aortic valve stenosis, Patent ductus arteriosus, Atrial septal defec...	OMIM:601803
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Accessory spleen, Patent foramen ovale, Portal hypertension, Pulmon...	OMIM:620005
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Neurofibrosarcoma, Spinal neurofibroma, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmon...	ORPHA:363700
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Bohring-Opitz Syndrome	Bradycardia, Medulloblastoma, Cardiomegaly, Nephroblastoma, Abnormal cardiac septum morphology	ORPHA:97297
Fusariosis	Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno...	ORPHA:228119
Mayer-Rokitansky-Küster-Hauser Syndrome	Pulmonic stenosis, Atrial septal defect	ORPHA:3109
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Thrombocytopenia, Leukopenia, Splenomegaly,...	OMIM:222700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Cardiomegaly, Splenic cyst, Patent foramen ovale, Tricuspid regurgitation, Retinal ...	OMIM:620371
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus	ORPHA:96191
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Cor pulmonale, Melena	OMIM:158310
Down Syndrome	Atrioventricular canal defect, Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutr...	ORPHA:870
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Hyperlipoproteinemia, Type I	Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly	OMIM:238600
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Bradycardia, Capillary leak, Neutrophilia in presence of...	ORPHA:99826
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai...	OMIM:301000
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Atrial septal defect, Right bundle branch block, Hypertrophic cardiomyo...	OMIM:617403
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hemorrhage, Melena, Enlarged kidney, Hepatocell...	OMIM:276700
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr...	ORPHA:51
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Jaundice, Enlarged kidney, Cholangitis, Periportal fibrosis, Hyperte...	ORPHA:731
Beckwith-Wiedemann Syndrome	Rhabdomyosarcoma, Enlarged kidney, Hepatomegaly, Leiomyosarcoma, Gonadoblastoma, Visceromegaly, H...	ORPHA:116
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Arrhythm...	OMIM:256040
Hennekam Syndrome	Lymphadenopathy, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymphangiec...	ORPHA:2136
Proximal Renal Tubular Acidosis	Subvalvular aortic stenosis, Hypovolemia	ORPHA:47159
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Transposition of the great arteries, Hepatomegaly, Acute lymphoblastic leukemia, Tetralogy of Fal...	OMIM:280000
Yellow Fever	Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, S...	ORPHA:99829
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Mitral valve prolapse, Nephroblastoma, Vent...	ORPHA:500095
Microphthalmia, Syndromic 1	Bicuspid aortic valve	OMIM:309800
Holt-Oram Syndrome	Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle, Perimembranous ventricul...	OMIM:142900
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Abnormal heart valve morph...	ORPHA:77293
Wiedemann-Rautenstrauch Syndrome	Pulmonic stenosis, Congenital malformation of the left heart, Dysplastic pulmonary valve	ORPHA:3455
Yunis-Varon Syndrome	Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Renovascular hypertension, Tetralo...	ORPHA:3472
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Abnormality of the pancreas, Lymphopenia	ORPHA:935
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Ventricular hypertrophy, Hypertension, Transient ischemic ...	ORPHA:51608
Peters Plus Syndrome	Abnormal cardiac septum morphology, Bicuspid pulmonary valve, Pulmonic stenosis, Patent ductus ar...	ORPHA:709
Cystic Fibrosis	Hepatomegaly, Cor pulmonale, Hepatosplenomegaly	OMIM:219700
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Portal ...	OMIM:619503
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 21.0 Data