Gene Summary

Name:
phospholipase C, epsilon 1
Synonyms:
4933403A21Rik,  PLCepsilon

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Plce1em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Plce1em1(IMPC)Mbp HOM Early adult 0.00
increased neutrophil cell number Plce1em1(IMPC)Mbp HOM Early adult 3.35×10-09
abnormal skin morphology Plce1em1(IMPC)Mbp HOM Early adult 0.00
increased monocyte cell number Plce1em1(IMPC)Mbp HOM Early adult 6.58×10-07
increased heart weight Plce1em1(IMPC)Mbp HOM Early adult 7.94×10-11
decreased lymphocyte cell number Plce1em1(IMPC)Mbp HOM Early adult 1.38×10-05
enlarged heart Plce1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Plce1em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes
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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

90 Images

X-ray

XRay Images Whole Body Lateral Orientation

30 Images

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart OMIM:241550
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Atrial fibrillation, Sick sinus syndrome, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Hepato... ORPHA:422
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Aortic Valve Disease 3
Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation OMIM:607016
Polyvalvular Heart Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic v... ORPHA:228410
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Aortic valve stenosis, Hypertrophic c... OMIM:615382
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Weill-Marchesani Syndrome
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve OMIM:300049
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Ethanolaminosis
Cardiomegaly OMIM:227150
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Angina pect... ORPHA:1330
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Hypertension, Bicuspid aortic valve OMIM:613355
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve ORPHA:228190
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Immunodeficiency 40
Lymphopenia OMIM:616433
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation OMIM:225320
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Renovascular hypertension, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve OMIM:604381
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Transposition of the great arteries, Bicuspid aortic valve OMIM:612474
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation ORPHA:98892
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 8
Lymphopenia OMIM:615401
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgitation, Left ventricular noncom... OMIM:616501
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Aortic regurgitation, Hypertension, Aortic va... ORPHA:402075
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... ORPHA:324410
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Hepatomegaly, Pulmonic stenosis, Aor... OMIM:615415
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic valve OMIM:618845
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Aortic Aneurysm, Familial Thoracic 4
Abnormal left ventricular function, Aortic regurgitation, Bicuspid aortic valve OMIM:132900
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Aortic valve stenosis OMIM:143880
Acquired Von Willebrand Syndrome
Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hyp... ORPHA:99147
Retinitis Pigmentosa 89
Hepatosplenomegaly, Bicuspid aortic valve OMIM:618955
Mcdonough Syndrome
Pulmonic stenosis, Aortic valve stenosis, Atrial septal defect, Ventricular septal defect OMIM:248950
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis OMIM:220220
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Gaucher Disease, Type I
Multiple myeloma, Epistaxis, Hypertension, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Pul... OMIM:230800
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia, Cor triatriatu... OMIM:612541
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Palpitations, Atrial septal defect, Abnormal heart ... ORPHA:2847
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Pulmonic stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:619149
Mend Syndrome
Aortic valve stenosis OMIM:300960
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Von Willebrand Disease, Type 1
Joint hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Aortic valve stenosis, Mitral valve pro... OMIM:193400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Abnormal aortic valve morphology, Tricus... ORPHA:1120
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis,... ORPHA:284169
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Pulmonary arterial hype... ORPHA:210122
Familial Aortic Dissection
Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:249670
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Abnormal heart valve morphology, Pulmonic stenosis OMIM:126190
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Pulmonic stenosis OMIM:185500
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenos... OMIM:208050
Immunodeficiency 19
Lymphopenia OMIM:615617
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Abnormal heart morphology DECIPHER:16
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonic stenosis, Aortic valve stenosis ORPHA:75496
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis ORPHA:2868
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, Mitral stenosis, Pulmonary arterial hype... OMIM:614185
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy OMIM:250951
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Exostoses, Ventricular septal defect ORPHA:251076
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Atrial septal defect, Hypoplastic left heart, Mitral stenosis OMIM:617660
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Aortic Valve Disease 2
Bicuspid aortic valve OMIM:614823
Cutis Laxa, Autosomal Dominant 1
Mitral regurgitation, Aortic regurgitation OMIM:123700
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
3C Syndrome
Facial hemangioma, Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphol... ORPHA:7
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart failure, Heart m... ORPHA:615
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Double outlet right ventricle, Conge... ORPHA:2326
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhag... ORPHA:363618
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Aortic valve stenosis, Right ventricular hypertroph... OMIM:267010
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve OMIM:243310
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Aortic Aneurysm, Familial Thoracic 10
Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Antisynthetase Syndrome
Aortic regurgitation, Telangiectasia of the skin, Neoplasm, Myocarditis, Pulmonary arterial hyper... ORPHA:81
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Aortic regurgitation, Abnormal heart valve morphology, Pulmonary insufficie... ORPHA:230851
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:609029
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Bicuspid aortic valve OMIM:615009
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Aortic valve stenosis, Tetralogy of Fallot, Abnormal cardiac septum morphol... ORPHA:96147
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Bicuspid aortic valve, Abnormal car... ORPHA:2306
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent foramen ovale, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve ORPHA:500159
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Bacterial endocarditis, Aortic regurgitation ORPHA:1054
Mungan Syndrome
Tricuspid regurgitation, Hypoperistalsis, Pulmonic stenosis, Perimembranous ventricular septal de... OMIM:611376
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Grange Syndrome
Renovascular hypertension, Coronary artery stenosis, Bicuspid aortic valve OMIM:602531
19P13.12 Microdeletion Syndrome
Arrhythmia, Atrial septal defect, Aortic regurgitation, Ventricular septal defect, Mitral regurgi... ORPHA:254346
Sarcosinemia
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic regurgitation OMIM:154750
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Atrial Fibrillation, Familial, 10
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... OMIM:614022
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Atrioventricular block, Double out... ORPHA:371428
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Hepatomegaly, A... OMIM:115197
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Mitral regurgi... OMIM:607015
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect ORPHA:459061
Mitral Valve Prolapse 2
Mitral valve prolapse, Mitral regurgitation OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse, Mitral regurgitation OMIM:610840
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Atrial septal defect, Aortic regurgitation, Subvalvular aortic stenosis OMIM:614114
Hunter-Macdonald Syndrome
Aortic regurgitation, Meningioma, Hypertension, Bicuspid aortic valve, Mitral valve prolapse, Mit... OMIM:611962
Hurler Syndrome
Aortic regurgitation, Endocardial fibroelastosis, Hepatomegaly, Splenomegaly, Mitral regurgitatio... OMIM:607014
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Mi... OMIM:121050
Noonan Syndrome 11
Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:618499
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Congestive heart failure, Splenomegaly,... ORPHA:2414
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve ORPHA:329224
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Left atrial enlargement, Congestive heart failure, Atrial fibrillation OMIM:617047
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Cardiomyopathy OMIM:613313
Weill-Marchesani Syndrome 1
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect OMIM:277600
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Syndromic Diarrhea
Atrial septal defect, Aortic regurgitation, Ventricular septal defect, Abnormal heart morphology,... ORPHA:84064
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal mitral valve morphology, Pulmonary insufficiency, Abnormal aortic ... ORPHA:576
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Congestive heart failure,... OMIM:601808
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Sc phocomelia syndrome
Aortic valve stenosis, Midface capillary hemangioma OMIM:269000
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Mitral regurgitation, Juvenile myelomonocytic leukemia, Aortic valve stenosis, Bicuspid aortic valve OMIM:613563
Heterotaxy, Visceral, 4, Autosomal
Ectopia of the spleen, Dextrocardia, Atrioventricular canal defect, Ventricular septal defect OMIM:613751
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:638
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:858
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Aortic valve stenosis OMIM:253010
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Aortic va... ORPHA:96170
Mosaic Variegated Aneuploidy Syndrome
Myelodysplasia, Atrial septal defect, Aortic regurgitation, Colon cancer, Neoplasm, Nephroblastom... ORPHA:1052
Monosomy 18Q
Pulmonary valve defects, Secundum atrial septal defect, Left-to-right shunt, Aortic valve stenosi... ORPHA:1600
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation OMIM:603585
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Benign neoplasm of the central nervous system, Subvalvular aortic stenosis ORPHA:1338
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Enthesitis-Related Juvenile Idiopathic Arthritis
Mitral valve prolapse, Aortic regurgitation, Abnormal heart morphology, Dilatation of the ventric... ORPHA:85438
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Numerous nevi, Bicuspid aortic valve OMIM:176690
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Cavernous hemangioma, Hepatomegaly, Heart murmur, Congestive heart failure,... OMIM:252500
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart ORPHA:261290
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Hypertension, Pulmonic stenosis, Aortic valve st... OMIM:100300
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis ORPHA:2780
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkinson-White syndrome, Cardiomegal... OMIM:300257
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:457279
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hemangioma, Atrial septal defect, Aortic regurgitation, Ventricular septal defect, Pulmonic steno... OMIM:607721
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, Congestive heart failure, Mitral stenosis OMIM:231050
Scheie Syndrome
Hepatomegaly, Aortic regurgitation, Splenomegaly ORPHA:93474
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Aortic regurgitation, Tricuspid regurgitation, Biventricular hypertrophy, M... OMIM:617402
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Myelodysplasia, Atrial septal defect, Aortic regurgitation, Tricuspid regurgitation, Acute myeloi... OMIM:601347
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Cardiomegaly, Patent fo... OMIM:618652
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Patent foramen ovale, Tetralogy o... OMIM:601005
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Aortic valve stenosis, Atrial septal defect, Enlarged kidney OMIM:208540
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Hemochromatosis, Type 3
Cirrhosis, Lymphopenia, Neutropenia, Anemia, Cardiomyopathy OMIM:604250
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Tetralogy of Fa... OMIM:222470
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Cardiofaciocutaneous Syndrome 3
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy OMIM:615279
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Ventricular septal defect, Tricuspid regurgitation... OMIM:143095
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonic stenosis, Double outlet right ventricle, Hypoplastic left heart, Abnormal heart morphology OMIM:618164
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve OMIM:300707
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Pulmonic stenosis ORPHA:90348
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Nasodigitoacoustic syndrome
Pulmonic stenosis OMIM:255980
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Arrhythmia, Membranous subvalvular aortic stenosis ORPHA:3191
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy... ORPHA:93476
Temtamy Syndrome
Aortic regurgitation OMIM:218340
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Mitral Valve Prolapse 1
Mitral valve prolapse, Mitral regurgitation OMIM:157700
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Pulmonic stenosis, Atrial septal defect OMIM:619239
Frontoocular Syndrome
Glabellar hemangioma, Pulmonic stenosis, Atrial septal defect, Capillary hemangioma OMIM:605321
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Atrial septal defect, Neutropenia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Abnormal cardiac septum morphology, Aortic regurgitation, Mitral atresia ORPHA:140952
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular aortic stenosis OMIM:217085
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect OMIM:614300
Kleefstra Syndrome
Ventricular septal defect, Tetralogy of Fallot, Arrhythmia, Bicuspid aortic valve ORPHA:261494
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Left ventricular hypertrophy,... OMIM:615355
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Loeys-Dietz Syndrome 4
Mitral valve prolapse, Bicuspid aortic valve OMIM:614816
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Neoplasm of the skeletal system, Multiple lipomas, Tricuspid valve prolaps... ORPHA:2396
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Weill-Marchesani Syndrome 2
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Congestive heart failure, Mi... OMIM:608328
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Aortic regurgitation ORPHA:309288
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve OMIM:610759
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect ORPHA:464311
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Aortic regurgitation, Ventricular septal defect, Perimembranous ventricular s... ORPHA:508498
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Cardiomyopathy ORPHA:79312
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Congenital Heart Defects, Multiple Types, 7
Pulmonic stenosis, Tetralogy of Fallot, Absence of the pulmonary valve OMIM:618780
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Hypertrophic ca... OMIM:212140
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Lateral Meningocele Syndrome
Bicuspid aortic valve OMIM:130720
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Cavernous hemangioma, Pulmonic stenosis, Right atrial enlargemen... OMIM:616028
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... OMIM:154700
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect ORPHA:464306
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Aortic regurgitation, Abnormal mitral valve morphology, Mitral valve cal... ORPHA:740
Koolen-De Vries Syndrome
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve OMIM:610443
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Hemochromatosis, Type 1
Arrhythmia, Hepatocellular carcinoma, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splen... OMIM:235200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Ventricular septal defect, Neoplasm ORPHA:261330
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Congestive heart failure, Nephroblastoma, Cardiomegaly, Perica... OMIM:253250
Cardiofaciocutaneous Syndrome 4
Pulmonic stenosis, Abnormal ventricular septum morphology, Abnormal aortic valve morphology OMIM:615280
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Reactive Arthritis
Pericarditis, Aortic regurgitation ORPHA:29207
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Refsum Disease, Classic
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Arrhythmia OMIM:266500
Noonan Syndrome 12
Supravalvular aortic stenosis, Tetralogy of Fallot, Glabellar hemangioma, Ventricular septal defect OMIM:618624
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:2701
Immunodeficiency 32B
Splenomegaly OMIM:226990
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Cardiome... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Beh├žet Disease
Endocarditis, Pericarditis, Aortic regurgitation, Gastrointestinal hemorrhage, Mitral regurgitati... ORPHA:117
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Sp... ORPHA:829
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:453499
Turnpenny-Fry Syndrome
Atrial septal defect, Aortic regurgitation, Numerous nevi, Tricuspid valve prolapse, Mitral valve... OMIM:618371
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormal heart morphology, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatom... ORPHA:398124
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega... OMIM:616278
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Cardiomegaly, Aortic... OMIM:182250
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Alagille Syndrome 2
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Hypertension OMIM:610205
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Spondyloarthropathy, Susceptibility To, 1
Arrhythmia, Aortic regurgitation OMIM:106300
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
2P15P16.1 Microdeletion Syndrome
Mitral regurgitation, Aortic regurgitation ORPHA:261349
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology ORPHA:401973
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Pulmonic stenosis, Bicuspid aortic valve OMIM:617137
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle... OMIM:179613
Primary Myelofibrosis