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Gene: Morc4 MGI:1922996

Gene Summary

Name:

microrchidia 4

Synonyms:

1600017G11Rik, 5630401M14Rik, Zcwcc2

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
abnormal lymph node morphology	Morc4^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Morc4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Morc4^em1(IMPC)Mbp	HEM	Early adult	0.00
shortened QT interval	Morc4^em1(IMPC)Mbp	HEM	Early adult	8.30×10^-05
microphthalmia	Morc4^em1(IMPC)Mbp	HEM	Early adult	0.00
increased circulating creatinine level	Morc4^em1(IMPC)Mbp	HOM	Early adult	1.63×10^-10
enlarged lymph nodes	Morc4^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal eye morphology	Morc4^em1(IMPC)Mbp	HEM	Early adult	0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Histopathology

Images

3 Images

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Human diseases caused by Morc4 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 Morc4 (0 diseases)
Human diseases predicted to be associated with Morc4 (837 diseases)

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

The table below shows human diseases predicted to be associated to Morc4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Kerion Celsi	Lymphadenopathy	ORPHA:499
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Gombo Syndrome	Microphthalmia	OMIM:233270
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ...	OMIM:618052
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Nanophthalmos	Microphthalmia	ORPHA:35612
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Hyperuricemia	ORPHA:543
Granulomatous Slack Skin	Abnormal lymph node morphology, Hypercalcemia	ORPHA:33111
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Nanophthalmos 4	Microphthalmia	OMIM:615972
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Splenomegaly, Arrhythmia, Atrioventricular block, Dilated car...	ORPHA:398124
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Muscular Dystrophy, Becker Type	Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Alpha-Heavy Chain Disease	Hypocalcemia, Splenomegaly, Lymphadenopathy	ORPHA:100025
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Increased circulating fe...	OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Lymphadenopathy, Increased circulating ferritin concentration, Splenomegaly	OMIM:603552
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Multiple Endocrine Neoplasia Type 1	Hematemesis, Melena, Hypertension, Shortened QT interval, Thymoma	ORPHA:652
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Dilated cardiomyop...	OMIM:610198
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Myofibrillar Myopathy 10	Increased QRS voltage, Prolonged QTc interval	OMIM:619040
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in...	ORPHA:57777
Congenital Toxoplasmosis	Microphthalmia, Lymphadenopathy	ORPHA:858
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent...	OMIM:601005
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Cervical lymphadenopathy, Inguinal lymphad...	OMIM:620514
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly	OMIM:620282
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Mmep Syndrome	Microphthalmia	ORPHA:3434
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency 27A	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Enlarged mesenteric lymph node	OMIM:209950
Nephroblastoma	Hypertension, Lymphadenopathy, Aniridia	ORPHA:654
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Decreased circulating iron concentration	OMIM:212050
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Autoimmune Lymphoproliferative Syndrome, Type Iii	Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati...	OMIM:615559
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade...	OMIM:618534
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Lymphadenopathy, Elevated circulating C-reactive p...	ORPHA:79126
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Pulmonary insufficiency, Absence of lymph node germinal center	ORPHA:277
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Familial Hyperaldosteronism Type Iii	Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage	ORPHA:251274
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Abnormal left ventricular function, Cardiomyopathy	OMIM:613155
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Schnitzler Syndrome	Lymphadenopathy, Splenomegaly, Vasculitis	ORPHA:37748
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:240500
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Abnormal lymph node morphology, Lymphadenopathy, Decreas...	ORPHA:85450
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Tachycardia, Abnormal nas...	ORPHA:3392
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Cofs Syndrome	Microphthalmia	ORPHA:1466
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,...	ORPHA:26793
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Bradycardia, Atrial fibrillation, Splenomegaly, Tachycardia	OMIM:613327
Heme Oxygenase 1 Deficiency	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asplenia, Increased circu...	OMIM:614034
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens...	ORPHA:75565
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden...	OMIM:602450
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology, Elevated circulating C-react...	ORPHA:54251
American Trypanosomiasis	Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopathy, Splenomegaly, Arrhythmia	ORPHA:3386
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Griscelli Syndrome Type 2	Splenomegaly, Hyperlipidemia, Lymphadenopathy	ORPHA:79477
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:620366
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Microphthalmia, Internal hemorrhage	ORPHA:335
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Immunodeficiency 52	Lymphadenopathy, Splenomegaly	OMIM:617514
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly	ORPHA:2584
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Increased LDL cho...	OMIM:267700
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris, Splenomegaly	ORPHA:290
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating inosine concentration, Lymph node hypoplasia, Splenomegaly, I...	OMIM:613179
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Multiple Myeloma	Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine c...	ORPHA:29073
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:607115
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Pierpont Syndrome	Microphthalmia	OMIM:602342
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Rhabdoid Tumor	Hypertension, Lymphadenopathy, Internal hemorrhage	ORPHA:69077
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Syncope, Palpitations, Bidirecti...	OMIM:170390
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:619750
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly	OMIM:615085
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Refsum Disease	Microphthalmia, Heart block, Cardiomyopathy, Splenomegaly	ORPHA:773
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Pulmonary arterial hypertension	OMIM:300887
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Facial telangiectasia, Right vent...	ORPHA:100093
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-...	ORPHA:91547
Gracile Bone Dysplasia	Microphthalmia, Hypoplastic spleen, Aniridia, Asplenia	OMIM:602361
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency 54	Lymphadenopathy, Splenomegaly	OMIM:609981
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Leishmaniasis	Hypoalbuminemia, Splenomegaly, Lymphadenopathy	ORPHA:507
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Splenomegaly	OMIM:607594
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Facial telan...	ORPHA:100080
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati...	OMIM:613095
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Lymphadenopathy, Vasculitis, Chronic noninfectious lymphadenopathy, ...	OMIM:603909
Boutonneuse Fever	Vasculitis, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Splenomegaly	OMIM:619375
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas...	ORPHA:2334
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Drug-Induced Lupus Erythematosus	Prolonged QTc interval, Pericarditis	ORPHA:231111
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly	OMIM:616651
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy, Intestinal bleeding	ORPHA:424019
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve...	OMIM:616878
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Splenomegaly	OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentra...	OMIM:308240
Scrub Typhus	Myocarditis, Lymphadenopathy, Hypotension, Splenomegaly	ORPHA:83317
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia	ORPHA:3191
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Vasculitis, Splenomegaly, Follicular hyperplasia	OMIM:601859
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Intracranial hemorrhage, Splenomegaly, Lymphadenopathy	ORPHA:3226
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Rett Syndrome	Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Histiocytoid Cardiomyopathy	Congestive heart failure, Microphthalmia, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial ...	ORPHA:137675
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Microphthalmia	OMIM:301108
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Lissencephaly 8	Microphthalmia	OMIM:617255
Griscelli Syndrome	Abnormal circulating lipid concentration, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:381
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:542323
Macrophage Activation Syndrome	Hypertriglyceridemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Spl...	ORPHA:158061
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy	ORPHA:71212
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Facial telan...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Facial telan...	ORPHA:100082
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia, Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Matthew-Wood Syndrome	Microphthalmia, Abnormal spleen morphology, Anophthalmia	ORPHA:2470
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation	OMIM:618652
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Prolonged QT interval	ORPHA:66634
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Increased total bilirubin, Hyponatremia, ...	OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:618048
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertension, Arrhythm...	ORPHA:139411
Legionnaires Disease	Myocarditis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, Pericarditis, Splenomegal...	ORPHA:549
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Sickle Cell Anemia	Abnormality of the spleen, Elevated circulating creatinine concentration, Splenic infarction, Unc...	ORPHA:232
Lymphoproliferative Syndrome 1	Lymphadenopathy, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating...	OMIM:613011
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomeg...	OMIM:619802
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:619644
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Lymphadenopathy, Hypotension, Portal hypertension, Hepatosplenomegal...	ORPHA:98850
Diffuse Cutaneous Mastocytosis	Hypotension, Lymphadenopathy, Gastrointestinal hemorrhage, Abnormality of the spleen	ORPHA:79456
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr...	ORPHA:79102
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Generalized lymphadenopathy, Elevated circulating C-rea...	ORPHA:829
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricula...	OMIM:300952
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly	OMIM:618935
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Primary Myelofibrosis	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Portal hypertension	ORPHA:824
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Mediastinal lymphadenopathy, Lymphadenopathy, Right ventricul...	ORPHA:199241
Omenn Syndrome	Splenomegaly, Hypoproteinemia, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad...	ORPHA:97289
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Gitelman Syndrome	Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven...	ORPHA:358
Castleman Disease	Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein concentrati...	ORPHA:160
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Bronchial Neuroendocrine Tumor	Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Facial telangiectasi...	ORPHA:97287
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:274150
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Tafro Syndrome	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concen...	ORPHA:457077
Monosomy 18P	Microphthalmia, Hypertension	ORPHA:1598
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Temtamy Syndrome	Microphthalmia, Aortic regurgitation	OMIM:218340
Sézary Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:3162
Immunodeficiency 10	Lymphadenopathy, Splenomegaly, Hypoplasia of the iris	OMIM:612783
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Splenomegaly, Hypoplasia of the iris	ORPHA:169090
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia	OMIM:617244
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Niemann-Pick Disease, Type A	Lymphadenopathy, Splenomegaly	OMIM:257200
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Trisomy 13	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Microphthalmia, Lens coloboma	OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy	ORPHA:370959
Cinca Syndrome	Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration	ORPHA:1451
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Lymphadenopathy	ORPHA:343
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Vitreoretinochoroidopathy	Vitreous hemorrhage, Microphthalmia, Retinal neovascularization	OMIM:193220
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Lymphadenopathy, Splenomegaly, Hypoalbuminemia, Increased circulating ferri...	ORPHA:540
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Pulmonary...	ORPHA:809
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Ileal Neuroendocrine Tumor	Lymphadenopathy, Hypotension, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, C...	ORPHA:100078
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration	ORPHA:230
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG	OMIM:310200
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Lymphadenopathy, Cardiomyopathy, Lymphadenitis, Hematochezia, Splenomeg...	OMIM:615895
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Microphthalmia	OMIM:243310
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Felty Syndrome	Bone marrow hypocellularity, Pericarditis, Splenomegaly, Lymphadenopathy	ORPHA:47612
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Congenital Sialidosis Type 2	Hepatosplenomegaly, Hypoplasia of the fovea, Abnormal EKG, Telangiectasia	ORPHA:93400
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Lymphadenopathy, Splenomegaly	ORPHA:36412
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation,...	ORPHA:100075
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Splenomegaly	OMIM:616100
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Cardiac arrest, Lymphadenopathy	ORPHA:139402
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Cardiomyopathy, Splenomegaly, Bundle branch block, Polysplenia	ORPHA:373
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration,...	OMIM:610377
Omenn Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:39041
Moebius Syndrome	Microphthalmia	OMIM:157900
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	OMIM:301078
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:617099
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Lymphadenopathy, Vasculitis, Retinal hemor...	ORPHA:33226
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Vasculitis, Vasculitis in the skin, Hematochezia, Subconjunctival hemorrhage, Ce...	OMIM:617718
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Igg4-Related Kidney Disease	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased retinol-binding...	ORPHA:449395
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Dextrocardia	T-wave inversion, Abnormality of the spleen, Abnormal EKG	ORPHA:1666
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Lymphadenopathy, Splenomegaly	OMIM:617591
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Marburg Hemorrhagic Fever	Lymphadenopathy, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration...	ORPHA:99826
Martsolf Syndrome 1	Congestive heart failure, Microphthalmia, Cardiac arrest, Cardiomyopathy	OMIM:212720
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Joubert Syndrome 14	Microphthalmia, Hypertension, Intracranial hemorrhage	OMIM:614424
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Rodrigues Blindness	Microphthalmia	OMIM:268320
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir...	ORPHA:90038
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Lig4 Syndrome	Telangiectasia of the skin, Lymphadenopathy	ORPHA:99812
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Microphthalmia	ORPHA:435638
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Microphthalmia	ORPHA:2505
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
17Q24.2 Microdeletion Syndrome	Pulmonic stenosis, Prolonged QT interval	ORPHA:529962
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Epistaxis, Lymphadenopathy	ORPHA:520
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Pseudohypoparathyroidism Type 1C	Prolonged QT interval	ORPHA:79444
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Chediak-Higashi Syndrome	Lymphadenopathy, Spontaneous, recurrent epistaxis, Splenomegaly, Macular hypoplasia	OMIM:214500
Adams-Oliver Syndrome	Pulmonary arterial hypertension, Microphthalmia, Portal hypertension, Gastrointestinal hemorrhage	ORPHA:974
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Pseudohypoparathyroidism Type 1A	Hypertension, Prolonged QT interval	ORPHA:79443
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly	OMIM:308230
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Splenomegaly	ORPHA:436159
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Facial telangiectasia, Right ventricular failure, Heart mu...	ORPHA:100085
Systemic Mastocytosis With Associated Hematologic Neoplasm	Lymphadenopathy, Tachycardia, Hypotension, Splenomegaly, Syncope	ORPHA:98849
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	OMIM:616449
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Tangier Disease	Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatospl...	ORPHA:31150
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal lymph node morphology, Lymphadenopathy, Vasculitis, Vasculitis in the skin,...	ORPHA:50918
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye	ORPHA:91495
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis	OMIM:618986
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Accessory spleen	OMIM:243605
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Al Amyloidosis	Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Arrh...	ORPHA:85443
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave	ORPHA:231625
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Q Fever	Myocarditis, Lymphadenopathy, Vasculitis, Pericarditis, Hepatosplenomegaly, Splenomegaly, Abnorma...	ORPHA:781
Pediatric Systemic Lupus Erythematosus	Raynaud phenomenon, Lymphadenopathy	ORPHA:93552
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Pulmonary hemorrhage, Hepatosplenomegaly, Portal hypertension	ORPHA:79124
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Telangiectasia, Corneal neovascularization	OMIM:278730
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Dpagt1-Cdg	Prolonged QT interval, Intracranial hemorrhage	ORPHA:86309
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Hyper-Igd Syndrome	Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Diffuse alveolar hemorrhage, Myo...	ORPHA:99827
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Mediastinal lymphadenopathy, Pulmonary arterial hypertension, Tricu...	OMIM:620233
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Sp...	ORPHA:37042
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Mosaic Trisomy 9	Microphthalmia, Asplenia	ORPHA:99776
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233700
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233710
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pulmonic stenosis, Hypoplastic spleen	OMIM:601186
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Neuroblastoma	Increased circulating ferritin concentration, Lymphadenopathy	ORPHA:635
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
45,X/46,Xy Mixed Gonadal Dysgenesis	Tachycardia, Prolonged QT interval	ORPHA:1772
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphadenopathy, Vasculitis, Hypertension, Portal hypertension, Bone marrow hypocellularity, Hepa...	OMIM:615688
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonic stenosis, Microphthalmia	OMIM:619148
Histiocytosis-Lymphadenopathy Plus Syndrome	Lymphadenopathy, Pulmonary arterial hypertension, Pulmonic stenosis, Facial telangiectasia, Hepat...	OMIM:602782
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Pulmonic stenosis, Microphthalmia, Dilated cardiomyopathy	OMIM:253800
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
H Syndrome	Abnormal cardiovascular system physiology, Facial telangiectasia, Hepatosplenomegaly, Lymphadenop...	ORPHA:168569
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Microphthalmia	OMIM:603467
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233690
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Poems Syndrome	Lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension	ORPHA:2905
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Vasculitis	ORPHA:1572
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia	OMIM:619418
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Hypocalcemic tetany, Aplasia of the thymus	ORPHA:83471
Micro Syndrome	Microphthalmia	ORPHA:2510
Meckel Syndrome 14	Microphthalmia, Mitral regurgitation, Tricuspid regurgitation	OMIM:619879
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Incontinentia Pigmenti	Congestive heart failure, Microphthalmia, Cerebral ischemia, Pulmonary arterial hypertension, Ret...	ORPHA:464
3Q29 Microdeletion Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:65286
Holoprosencephaly	Microphthalmia, Arrhythmia, Abnormality of the spleen, Anophthalmia	ORPHA:2162
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Lymphedema-Distichiasis Syndrome	Microphthalmia, Arrhythmia	OMIM:153400
Galloway-Mowat Syndrome 3	Microphthalmia, Hypertension	OMIM:617729
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypertension, Retinal hemorrhage, Hypoplasia of t...	OMIM:609049
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Farber Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypertension, Prolonged QT interval, Myocardial infarction	ORPHA:99413
Mosaic Monosomy X	Hypertension, Prolonged QT interval, Myocardial infarction	ORPHA:99228
Monosomy X	Hypertension, Prolonged QT interval, Myocardial infarction	ORPHA:99226
Turner Syndrome	Hypertension, Prolonged QT interval, Myocardial infarction	ORPHA:881
Atelis Syndrome 2	Pulmonic stenosis, Microphthalmia, Vitreous hemorrhage, Supravalvar pulmonary stenosis	OMIM:620185
Familial Mediterranean Fever	Lymphadenopathy, Vasculitis, Pericarditis, Splenomegaly, Arrhythmia, Myocardial infarction	ORPHA:342
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Lymphadenopathy, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, Splenom...	ORPHA:167
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:464738
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Cockayne Syndrome B	Microphthalmia, Hypertension, Hypoplasia of the iris, Splenomegaly, Arrhythmia	OMIM:133540
Hallermann-Streiff Syndrome	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Cockayne Syndrome Type 3	Microphthalmia, Increased blood pressure, Cardiomyopathy, Retinal hemorrhage, Splenomegaly, Subdu...	ORPHA:90324
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Microphthalmia, Junctional ectopic tachycardia, Arrhythmia	OMIM:309801
Congenital Syphilis	Myocarditis, Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Pulmonary arterial hypertension, Microphthalmia, Portal hypertension, Accessory spleen	OMIM:620005
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2538
Meckel Syndrome	Microphthalmia, Anophthalmia, Accessory spleen, Asplenia, Aplasia/Hypoplasia of the iris	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Microphthalmia	OMIM:227645
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Neuroendocrine Neoplasm Of Appendix	Hypotension, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitations	ORPHA:100079
Focal Dermal Hypoplasia	Microphthalmia, Telangiectasia of the skin, Hypoplasia of the iris	ORPHA:2092
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Lymphadenopathy	OMIM:607944
Selective Igm Deficiency	Lymphadenitis, Raynaud phenomenon, Lymphadenopathy	ORPHA:331235
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction	ORPHA:268
Behçet Disease	Gastrointestinal hemorrhage, Lymphadenopathy, Aortic regurgitation, Vasculitis, Cerebral ischemia...	ORPHA:117
Cohen Syndrome	Microphthalmia	ORPHA:193
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Vasculitis, Cerebral ischemia, Pericarditis, Abnorm...	ORPHA:228123
Frontorhiny	Microphthalmia	ORPHA:391474
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Gastrointes...	ORPHA:538
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris	OMIM:251300
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:306400
Leptospirosis	Lymphadenopathy, Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrhy...	ORPHA:509
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly, Pericarditis, Vasculitis	ORPHA:32960
Fryns Syndrome	Microphthalmia	ORPHA:2059
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia	OMIM:272950
Oculodentodigital Dysplasia	Microphthalmia, Arrhythmia	OMIM:164200
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Adenocarcinoma Of The Anal Canal	Lymphadenopathy, Intestinal bleeding	ORPHA:424016
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Microphthalmia	OMIM:614083
Cat Eye Syndrome	Pulmonic stenosis, Microphthalmia	OMIM:115470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage	OMIM:308300
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Microphthalmia, Buphthalmos	OMIM:236670
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Autoimmune Lymphoproliferative Syndrome	Lymphadenopathy, Vasculitis, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, ...	ORPHA:3261
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul...	OMIM:619534
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Arrhythmia, D...	ORPHA:2556
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
22Q11.2 Deletion Syndrome	Microphthalmia, Gastrointestinal hemorrhage, Corneal neovascularization, Abnormality of the tonsi...	ORPHA:567
Noonan Syndrome	Abnormality of the lymphatic system, Hypertrophic cardiomyopathy, Abnormality of the spleen, Arrh...	ORPHA:648
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Microphthalmia	OMIM:227646
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of the thymus	ORPHA:861
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ...	ORPHA:99829
Hallermann-Streiff Syndrome	Congestive heart failure, Microphthalmia	ORPHA:2108
Immunodeficiency 31C	Lymphadenopathy, Splenomegaly	OMIM:614162
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Aortic regurgitation	ORPHA:508498
Sarcoidosis	Heart block, Abnormal lymph node morphology, Lymphadenopathy, Abnormal cardiac ventricular functi...	ORPHA:797
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Cousin Syndrome	Microphthalmia	OMIM:260660
Trisomy 18	Microphthalmia	ORPHA:3380
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Degcags Syndrome	Microphthalmia, Abnormal spleen morphology, Pulmonary arterial hypertension, Pulmonic stenosis, H...	OMIM:619488
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Chikungunya	Cervical lymphadenopathy, Raynaud phenomenon, Epistaxis, Lymphadenopathy	ORPHA:324625
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Aortic regurgitation	ORPHA:1052
African Trypanosomiasis	Myocarditis, Congestive heart failure, Lymphadenopathy, Pericarditis, Hepatosplenomegaly, Splenom...	ORPHA:3385
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro...	ORPHA:91500
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Lymphadenopathy, Splenomegaly, Hypophosphatemia	ORPHA:667
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Cockayne Syndrome	Microphthalmia, Hypertension, Splenomegaly, Retinal hemorrhage	ORPHA:191
Meckel Syndrome, Type 1	Asplenia, Microphthalmia, Splenomegaly, Accessory spleen	OMIM:249000
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Telangiectasia	OMIM:268400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Pulmonary arterial hypertension, Aplasia of the thymus	OMIM:620186
Immunodeficiency 82 With Systemic Inflammation	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hypernatremia, Splenomega...	OMIM:619381
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Fryns Syndrome	Microphthalmia, Polysplenia	OMIM:229850
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Tetraamelia Syndrome 1	Microphthalmia, Asplenia	OMIM:273395
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Brucellosis	Myocarditis, Lymphadenopathy, Arteritis, Transient ischemic attack, Pericarditis, Splenomegaly, H...	ORPHA:1304
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Trichothiodystrophy	Bilateral microphthalmos, Cardiomyopathy	ORPHA:33364
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Myhre Syndrome	Aortic valve stenosis, Microphthalmia, Hypertension	OMIM:139210
Adams-Oliver Syndrome 1	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve st...	OMIM:100300
Mend Syndrome	Aortic valve stenosis, Microphthalmia	ORPHA:401973
Fanconi Anemia	Microphthalmia, Aplasia/Hypoplasia of the iris, Hypertrophic cardiomyopathy	ORPHA:84
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulat...	OMIM:256040
Blau Syndrome	Large vessel vasculitis, Lymphadenopathy, Hypertension, Pulmonary arterial hypertension, Pericard...	ORPHA:90340
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Phthisis bulbi	OMIM:300166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia, Hypertension, Cardiomyopathy, Pulmonary arterial hypert...	ORPHA:3472
Aicardi Syndrome	Microphthalmia	ORPHA:50
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Systemic Lupus Erythematosus	Hypertension, Raynaud phenomenon, Lymphadenopathy	ORPHA:536
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Aicardi Syndrome	Microphthalmia	OMIM:304050
Primary Sjögren Syndrome	Vasculitis, Raynaud phenomenon, Lymphadenopathy, Arteritis	ORPHA:289390
Monosomy 9P	Microphthalmia	ORPHA:261112
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Microphthalmia, Pulmonary arterial hypertension	OMIM:612289
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:468631
Roberts Syndrome	Microphthalmia	ORPHA:3103
Igg4-Related Ophthalmic Disease	Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:449563
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Hypertension, Neoplasm of the thymus, Capillary fragility, Myocar...	ORPHA:99889
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos, Pulmonic stenosis, Aplasia/Hypoplasia of...	OMIM:214800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Focal Dermal Hypoplasia	Microphthalmia, Telangiectasia, Aniridia, Anophthalmia	OMIM:305600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Aortic regurgitation	OMIM:612474
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal thymus morphology, Anophthalmia	OMIM:219000
Hydrolethalus Syndrome 1	Microphthalmia, Accessory spleen	OMIM:236680
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Microphthalmia, Corneal neovascularization, Retinal hemorrhage, Hypoplasia of th...	OMIM:175780
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Ectopic thymus tissue	OMIM:113620
Witteveen-Kolk Syndrome	Microphthalmia, Intracranial hemorrhage	OMIM:613406
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos, Gastrointestinal hemorrhage	ORPHA:508488
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Mowat-Wilson Syndrome	Pulmonic stenosis, Microphthalmia	OMIM:235730
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Accessory spleen	OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pulmonic stenosis, Microphthalmia, Aortic valve stenosis, Asplenia	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Asplenia, Hyphema, Aortic valve stenosis, Pulmonic stenosis	ORPHA:261552
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Mowat-Wilson Syndrome	Pulmonic stenosis, Microphthalmia, Aortic valve stenosis, Asplenia	ORPHA:2152
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800

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.

Phenotype	Allele	Zygosity	Life Stage
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Morc4^em1(IMPC)Mbp	HOM	Early adult
Eye - MPATH pathological process term hypoplasia	Morc4^em1(IMPC)Mbp	HEM	Early adult
Lymph node - MPATH pathological process term hyperplasia	Morc4^em1(IMPC)Mbp	HOM	Early adult

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 Morc4.

No publications found that use IMPC mice or data for Morc4.

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MGI Allele	Allele Type	Produced
Morc4^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Morc4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Morc4^{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: Morc4 MGI:1922996

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Histopathology

Human diseases caused by Morc4 mutations

Histopathology

IMPC related publications

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