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Gene: Nup155 MGI:2181182

Gene Summary

Name:

nucleoporin 155

Synonyms:

D930027M19Rik

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
preweaning lethality, complete penetrance	Nup155^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Nup155^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Nup155^em1(IMPC)Mbp	HET	Early adult	0.00
increased blood urea nitrogen level	Nup155^em1(IMPC)Mbp	HET	Early adult	8.37×10^-05
enlarged lymph nodes	Nup155^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Nup155^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Nup155^em1(IMPC)Mbp	HOM	E9.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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Gross Morphology Embryo E9.5

Images

6 Images

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Human diseases caused by Nup155 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 Nup155 (2 diseases)
Human diseases predicted to be associated with Nup155 (741 diseases)

The table below shows human diseases associated to Nup155 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Atrial Fibrillation, Familial, 15		Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Familial Atrial Fibrillation		Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334

The table below shows human diseases predicted to be associated to Nup155 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Atrial fibrillation, Elevated left ventricular end-di...	OMIM:612201
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation	OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Sudden cardiac death, Left ventricular outflow tract obstruction, Concentric...	OMIM:619402
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation	OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Atrial Fibrillation, Familial, 13	Aortic valve stenosis, Paroxysmal atrial fibrillation	OMIM:615377
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Atrial fibrillation	OMIM:614676
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra...	OMIM:614980
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Congenital Heart Defects, Multiple Types, 5	Dilated cardiomyopathy, Aortic valve stenosis, Atrial fibrillation	OMIM:617912
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Kerion Celsi	Lymphadenopathy	ORPHA:499
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu...	ORPHA:75249
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T...	OMIM:603552
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation	OMIM:616166
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation	OMIM:613205
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ...	ORPHA:3092
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Galactosemia Iii	Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly	OMIM:230350
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri...	ORPHA:766
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly	OMIM:261750
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc...	ORPHA:90064
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:613313
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe...	OMIM:616860
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy	ORPHA:100083
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy	ORPHA:1177
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Heart Block, Congenital	Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria...	OMIM:234700
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia	OMIM:610539
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Partial Atrioventricular Septal Defect	Atrial flutter, Angina pectoris, Transient ischemic attack, Heart murmur, Mitral regurgitation, S...	ORPHA:1330
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o...	ORPHA:54251
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:615234
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block	ORPHA:392
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation	OMIM:223360
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Mcleod Syndrome	Cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation	OMIM:300842
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Adenine Phosphoribosyltransferase Deficiency	Hypertension, Atrial fibrillation	ORPHA:976
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abnormality of the lymphatic sys...	ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl...	OMIM:115197
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Hypertrophic cardiomyopathy, Decreased sensory nerve cond...	OMIM:229300
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Eisenmenger Syndrome	Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric...	ORPHA:97214
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Myofibrillar Myopathy 10	Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, EEG w...	OMIM:261740
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia	ORPHA:79312
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Aortic v...	ORPHA:324410
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato...	OMIM:619750
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat...	ORPHA:254892
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, EEG abnormality	OMIM:312750
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulati...	OMIM:603553
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ...	ORPHA:829
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath...	OMIM:619644
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Hypercalcemia, Enlarged kidney, Increased blood urea nitrogen	ORPHA:251004
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,...	ORPHA:860
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl...	ORPHA:98863
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter	OMIM:601927
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T...	ORPHA:540
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio...	ORPHA:160
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased...	OMIM:235200
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Adult-Onset Cervical Dystonia, Dyt23 Type	Supraventricular arrhythmia	ORPHA:420492
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction	ORPHA:268
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le...	OMIM:615895
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Cln3 Disease	T-wave inversion, Bradycardia	ORPHA:228346
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Roifman Syndrome	Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce...	OMIM:210250
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Increased blood urea nitrogen	ORPHA:90321
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Abnormality of pe...	OMIM:601992
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Legionnaires Disease	Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly...	ORPHA:549
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A...	ORPHA:567983
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation	OMIM:164310
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Thymic Neuroendocrine Tumor	Hypercalcemia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of ...	ORPHA:97289
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Congenital Sialidosis Type 2	Abnormal EKG, Telangiectasia	ORPHA:93400
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong...	OMIM:616878
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Microvesicular hepatic steato...	OMIM:619418
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang...	ORPHA:2137
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Acute leukemia, Lymphadenopathy	ORPHA:99812
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic peptide conc...	ORPHA:100093
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy	ORPHA:36412
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart failure, Hype...	ORPHA:280365
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Graft Versus Host Disease	Jaundice, Chronic hepatitis, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubi...	ORPHA:39812
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Mitral regurgitation, Atrial fibrillation, Pulmonic stenosis	ORPHA:284984
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte...	OMIM:615688
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,...	OMIM:170390
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:167
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp...	OMIM:300755
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Hyperu...	OMIM:232220
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, EEG abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia	ORPHA:2131
Isolated Biliary Atresia	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder, Jaundice, Cholest...	ORPHA:30391
Congenital Heart Defects, Multiple Types, 9	Pulmonic stenosis, Left axis deviation	OMIM:620294
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Decreased circulating copper concentration, Sp...	OMIM:300972
Progeria-Short Stature-Pigmented Nevi Syndrome	Supraventricular arrhythmia	ORPHA:2959
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lym...	OMIM:602782
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Q Fever	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn...	ORPHA:781
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto...	ORPHA:93552
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Enlarged kidney, Hi...	ORPHA:168569
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Loeys-Dietz Syndrome 3	Mitral regurgitation, Atrial fibrillation, Pulmonic stenosis, Subarachnoid hemorrhage	OMIM:613795
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Peritonitis, L...	ORPHA:32960
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Thromboc...	OMIM:222700
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu...	OMIM:276700
Poems Syndrome	Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Visceromegaly	ORPHA:2905
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Hennekam Syndrome	Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangiom...	ORPHA:2136
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V...	ORPHA:91347
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, ...	ORPHA:731
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia	ORPHA:667
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Familial Mediterranean Fever	Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis	ORPHA:342
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Brucellosis	Hepatomegaly, Liver abscess, Elevated circulating C-reactive protein concentration, Hypersplenism...	ORPHA:1304
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Hypertriglyceridemi...	OMIM:619573
Hamamy Syndrome	Mitral regurgitation, Prolonged QRS complex	OMIM:611174
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Increase...	OMIM:615846
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy	ORPHA:449432
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly...	ORPHA:449395
Lymphangioleiomyomatosis	Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Coccidioidomycosis	Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopath...	ORPHA:228123
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Goodpasture Syndrome	Anemia, Increased blood urea nitrogen	OMIM:233450
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Ogden Syndrome	Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ...	OMIM:300855
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas...	ORPHA:99827
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia	OMIM:270100
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Hypercalcemia, Portal hypertension, Eosinophilia, Thrombocytopeni...	ORPHA:797
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	OMIM:181000
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia	ORPHA:509
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Behçet Disease	Splenomegaly, Pancreatitis, Lymphadenopathy	ORPHA:117
Kawasaki Disease	Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis	ORPHA:2331
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100079
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Blau Syndrome	Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy	ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Smith-Lemli-Opitz Syndrome	Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation	OMIM:270400
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp...	ORPHA:99889

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 Nup155

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 Nup155.

No publications found that use IMPC mice or data for Nup155.

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MGI Allele	Allele Type	Produced
Nup155^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Nup155^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nup155^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nup155 MGI:2181182

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Nup155 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data