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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
increased circulating creatinine level	Morc4^em1(IMPC)Mbp	HOM	Early adult	1.63×10^-10
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
abnormal lymph node morphology	Morc4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Morc4^em1(IMPC)Mbp	HEM	Early adult	0.00
microphthalmia	Morc4^em1(IMPC)Mbp	HEM	Early adult	0.00
shortened QT interval	Morc4^em1(IMPC)Mbp	HEM	Early adult	6.10×10^-05
enlarged lymph nodes	Morc4^em1(IMPC)Mbp	HEM	Early adult	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 Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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 (826 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	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	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	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Kerion Celsi	Lymphadenopathy	ORPHA:499
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Gombo Syndrome	Microphthalmia	OMIM:233270
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Nanophthalmos	Microphthalmia	ORPHA:35612
Burkitt Lymphoma	Abnormality of the spleen, Hyperuricemia, Abnormal lymph node morphology	ORPHA:543
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy	ORPHA:100083
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Splenomegaly, Dilated cardiomyopathy, Atrioventricular block,...	ORPHA:398124
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Lymphadenopathy	ORPHA:100025
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Thymoma, Melena, Hypertension	ORPHA:652
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Lymphadenopathy	OMIM:603552
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Myofibrillar Myopathy 10	Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Congenital Toxoplasmosis	Microphthalmia, Lymphadenopathy	ORPHA:858
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron, Lymphadenopathy	OMIM:212050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Mmep Syndrome	Microphthalmia	ORPHA:3434
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Nephroblastoma	Aniridia, Hypertension, Lymphadenopathy	ORPHA:654
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Immunodeficiency 27A	Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia	OMIM:209950
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy, Hypertriglyceridemia	OMIM:620282
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	OMIM:615559
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Epistaxis, Hepatosplenomegaly	OMIM:612840
Sickle Cell Anemia	Abnormality of the spleen, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:232
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:79126
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Schnitzler Syndrome	Splenomegaly, Vasculitis, Lymphadenopathy	ORPHA:37748
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy	OMIM:613155
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Tularemia	Tachycardia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ly...	ORPHA:3392
Cofs Syndrome	Microphthalmia	ORPHA:1466
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Heme Oxygenase 1 Deficiency	Elevated circulating C-reactive protein concentration, Asplenia, Increased circulating ferritin c...	OMIM:614034
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,...	OMIM:613179
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor...	ORPHA:54251
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia	OMIM:613327
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Immunodeficiency 10	Hypoplasia of the iris, Lymphadenopathy	OMIM:612783
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
American Trypanosomiasis	Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopathy, Arrhythmia	ORPHA:3386
Congenital Fibrinogen Deficiency	Microphthalmia, Tachycardia, Splenic rupture, Internal hemorrhage	ORPHA:335
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia	ORPHA:290
Rhabdoid Tumor	Hypertension, Internal hemorrhage, Lymphadenopathy	ORPHA:69077
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Cinca Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly	OMIM:607115
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Unilateral microphthalmos	OMIM:615085
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Syncope, Palpitations, Prominent U wave,...	OMIM:170390
Griscelli Syndrome Type 2	Splenomegaly, Hyperlipidemia, Lymphadenopathy	ORPHA:79477
Pierpont Syndrome	Microphthalmia	OMIM:602342
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating amyloid A, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	OMIM:619750
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Refsum Disease	Microphthalmia, Splenomegaly, Heart block, Cardiomyopathy	ORPHA:773
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Pulmonary arterial hypertension	OMIM:300887
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Cutaneous Mastocytoma	Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension, Lymphadenopathy	ORPHA:79455
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Gracile Bone Dysplasia	Asplenia, Microphthalmia, Hypoplastic spleen, Aniridia	OMIM:602361
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Lymphadenop...	OMIM:308240
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Leishmaniasis	Splenomegaly, Hypoalbuminemia, Lymphadenopathy	ORPHA:507
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy	ORPHA:424019
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Drug-Induced Lupus Erythematosus	Pericarditis, Prolonged QTc interval	ORPHA:231111
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Roifman Syndrome	Noncompaction cardiomyopathy, Splenomegaly, Lymphadenopathy	OMIM:616651
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong...	OMIM:616878
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia	ORPHA:3191
Carcinoid Syndrome	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart ...	ORPHA:100093
Roifman Syndrome	Noncompaction cardiomyopathy, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy	ORPHA:1177
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Follicular hyperplasia	OMIM:614470
Lissencephaly 8	Microphthalmia	OMIM:617255
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splen...	OMIM:603909
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Boutonneuse Fever	Cervical lymphadenopathy, Vasculitis, Lymphadenopathy	ORPHA:83313
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Melena...	ORPHA:100080
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Lymphoproliferative Syndrome 1	Splenomegaly, Increased circulating ferritin concentration, Elevated circulating C-reactive prote...	OMIM:613011
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Griscelli Syndrome	Splenomegaly, Abnormal circulating lipid concentration, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:381
Scrub Typhus	Myocarditis, Splenomegaly, Hypotension, Lymphadenopathy	ORPHA:83317
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia, Abnormal spleen morphology	ORPHA:2470
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension, Optic nerve hypoplasia	OMIM:620029
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Dilated cardiomyopathy	ORPHA:66634
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens...	ORPHA:139411
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:618048
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation	OMIM:618652
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly	OMIM:619644
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemato...	ORPHA:100082
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Hypotension, Lymphadenopathy	ORPHA:79456
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Splenomegaly, Mediastinal lymphadenopathy, Increased circulating ferritin c...	OMIM:619802
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Legionnaires Disease	Pericarditis, Splenomegaly, Myocarditis, Lymphadenopathy, Bone marrow hypocellularity, Hypotensio...	ORPHA:549
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Lymphadenopathy, Hepatosplenomeg...	ORPHA:98850
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	OMIM:603553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Omenn Syndrome	Hypoproteinemia, Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Adult-Onset Still Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Splenomegaly,...	ORPHA:829
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Hypercalcemia, Chronic noninfectious lymphad...	ORPHA:97289
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy	ORPHA:169090
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Monosomy 18P	Microphthalmia, Hypertension	ORPHA:1598
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Temtamy Syndrome	Aortic regurgitation, Microphthalmia	OMIM:218340
Castleman Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	ORPHA:160
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Portal hypertension, Hepatosplenomegaly	ORPHA:824
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Fanconi Anemia, Complementation Group R	Microphthalmia, Bone marrow hypocellularity	OMIM:617244
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy	OMIM:257200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Cinca Syndrome	Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:1451
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:199241
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Palpit...	ORPHA:97287
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Vasculitis, Lymphadenopathy	ORPHA:343
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Lymphadenopathy, Palpitations,...	ORPHA:100078
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis...	ORPHA:809
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia, Bone marrow hypocellularity	OMIM:609053
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Congestive heart failure, Lymphadenopathy, H...	OMIM:615895
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis	OMIM:243310
Felty Syndrome	Splenomegaly, Pericarditis, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Telangiectasia, Hepatosplenomegaly	ORPHA:93400
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Small vessel vasculitis, Lymphadenopathy	ORPHA:36412
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Splenomegaly, Cardiomyopathy, Polysplenia	ORPHA:373
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Omenn Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:39041
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Moebius Syndrome	Microphthalmia	OMIM:157900
Mevalonic Aciduria	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	OMIM:610377
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Hemate...	ORPHA:100075
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Cardiac arrest, Lymphadenopathy	ORPHA:139402
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Hematochezia, Subconjunctival hemorrhage, ...	OMIM:617718
Dextrocardia	Abnormality of the spleen, Abnormal EKG, T-wave inversion	ORPHA:1666
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:617099
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100026
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Splenomegaly, Congestive heart failure, Vasculitis, Retin...	ORPHA:33226
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Joubert Syndrome 14	Intracranial hemorrhage, Microphthalmia, Hypertension	OMIM:614424
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Rodrigues Blindness	Microphthalmia	OMIM:268320
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Martsolf Syndrome 1	Microphthalmia, Congestive heart failure, Cardiac arrest, Cardiomyopathy	OMIM:212720
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Lig4 Syndrome	Telangiectasia of the skin, Lymphadenopathy	ORPHA:99812
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
3P25.3 Microdeletion Syndrome	Microphthalmia, Pulmonic stenosis	ORPHA:435638
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Hypertriglyceridemia, Lymphadenopathy	OMIM:617591
Pseudohypoparathyroidism Type 1C	Prolonged QT interval	ORPHA:79444
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Hypertension	ORPHA:79443
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Congestive heart failure	ORPHA:2505
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Lymphadenopathy	ORPHA:520
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Chediak-Higashi Syndrome	Splenomegaly, Macular hypoplasia, Spontaneous, recurrent epistaxis, Lymphadenopathy	OMIM:214500
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Microphthalmia, Pulmonary arterial hypertension, Portal hypertension	ORPHA:974
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Graft Versus Host Disease	Tachycardia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Elevated circulating creati...	ORPHA:449395
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Splenomegaly, Lymphadenopathy, Syncope, Hypotension	ORPHA:98849
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	OMIM:616449
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Vasculitis, Myocarditis, Abn...	ORPHA:50918
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Stromme Syndrome	Accessory spleen, Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly	OMIM:618986
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Pediatric Systemic Lupus Erythematosus	Raynaud phenomenon, Lymphadenopathy	ORPHA:93552
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Pulmonary hemorrhage, Portal hypertension, Hepatosplenomegaly	ORPHA:79124
Aregenerative Anemia	Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Q Fever	Pericarditis, Splenomegaly, Myocarditis, Vasculitis, Lymphadenopathy, Abnormal left ventricular f...	ORPHA:781
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Lymphadenopathy, He...	ORPHA:99827
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Mosaic Trisomy 9	Asplenia, Microphthalmia	ORPHA:99776
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Pulmonic stenosis, Hypoplastic spleen	OMIM:601186
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Histiocytosis-Lymphadenopathy Plus Syndrome	Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Pulmonic stenosis, F...	OMIM:602782
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:619148
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Abnormal blood ion concentration, Lymphadenopathy, Hypoalbuminemia, Hypocalcemia, H...	ORPHA:37042
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Portal hypertension, Raynaud phenomenon, Splenomegaly, Dilated cardiomyopathy, Vasculitis, Lympha...	OMIM:615688
Dpagt1-Cdg	Intracranial hemorrhage, Prolonged QT interval	ORPHA:86309
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Familial Mediterranean Fever	Pericarditis, Myocardial infarction, Splenomegaly, Vasculitis, Lymphadenopathy, Arrhythmia	ORPHA:342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
H Syndrome	Abnormal cardiovascular system physiology, Lymphadenopathy, Facial telangiectasia, Hepatosplenome...	ORPHA:168569
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Fanconi Anemia, Complementation Group F	Microphthalmia, Bone marrow hypocellularity	OMIM:603467
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Meckel Syndrome 14	Microphthalmia, Mitral regurgitation, Tricuspid regurgitation	OMIM:619879
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
3Q29 Microdeletion Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:65286
Holoprosencephaly	Microphthalmia, Abnormality of the spleen, Arrhythmia, Anophthalmia	ORPHA:2162
Common Variable Immunodeficiency	Splenomegaly, Vasculitis, Lymphadenopathy	ORPHA:1572
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Polysplenia	OMIM:619418
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Lymphedema-Distichiasis Syndrome	Microphthalmia, Arrhythmia	OMIM:153400
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype...	ORPHA:464
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper...	OMIM:609049
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Atelis Syndrome 2	Microphthalmia, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
Galloway-Mowat Syndrome 3	Microphthalmia, Hypertension	OMIM:617729
Poems Syndrome	Pulmonary arterial hypertension, Lymphadenopathy	ORPHA:2905
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L...	ORPHA:167
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Myocardial infarction	ORPHA:881
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:464738
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy	ORPHA:424016
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Microphthalmia, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Hallermann-Streiff Syndrome	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Cockayne Syndrome B	Splenomegaly, Hypoplasia of the iris, Hypertension, Microphthalmia, Arrhythmia	OMIM:133540
Meckel Syndrome	Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Lymphangioma	ORPHA:2136
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Fanconi Anemia, Complementation Group C	Microphthalmia, Bone marrow hypocellularity	OMIM:227645
Cockayne Syndrome Type 3	Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, ...	ORPHA:90324
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Microphthalmia, Pulmonary arterial hypertension, Portal hypertension	OMIM:620005
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction	ORPHA:268
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Lymphadenopathy	OMIM:607944
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Telangiectasia of the skin	ORPHA:2092
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Cohen Syndrome	Microphthalmia	ORPHA:193
Selective Igm Deficiency	Raynaud phenomenon, Lymphadenitis, Lymphadenopathy	ORPHA:331235
Frontorhiny	Microphthalmia	ORPHA:391474
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitations, Hypotension	ORPHA:100079
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2538
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Coccidioidomycosis	Pericarditis, Abnormality of the spleen, Mediastinal lymphadenopathy, Vasculitis, Lymphadenopathy...	ORPHA:228123
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Pericarditis, Vasculitis, Lymphadenopathy	ORPHA:32960
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Teebi-Shaltout Syndrome	Microphthalmia, Aortic valve stenosis	OMIM:272950
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymphadenopathy, Subconjun...	ORPHA:509
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system,...	ORPHA:538
Fryns Syndrome	Microphthalmia	ORPHA:2059
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Fanconi Anemia, Complementation Group L	Microphthalmia, Bone marrow hypocellularity	OMIM:614083
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Vasculitis, Lymphadenopathy, ...	ORPHA:3261
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage	OMIM:308300
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Cat Eye Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:115470
Oculodentodigital Dysplasia	Microphthalmia, Arrhythmia	OMIM:164200
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Abnormality of the tonsils, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:567
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Fanconi Anemia, Complementation Group D2	Microphthalmia, Bone marrow hypocellularity	OMIM:227646
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:619534
Kawasaki Disease	Pericarditis, Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Vasculitis, Arrhyt...	ORPHA:2331
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of the thymus	ORPHA:861
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ...	ORPHA:2556
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Cousin Syndrome	Microphthalmia	OMIM:260660
Trisomy 18	Microphthalmia	ORPHA:3380
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Microphthalmia, Optic nerve hypoplasia	ORPHA:508498
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,...	ORPHA:797
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypophosphatemia, Hypocalcemia, Lymphadenopathy	ORPHA:667
Hallermann-Streiff Syndrome	Microphthalmia, Congestive heart failure	ORPHA:2108
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Meckel Syndrome, Type 1	Asplenia, Splenomegaly, Microphthalmia, Accessory spleen	OMIM:249000
African Trypanosomiasis	Abnormal EKG, Pericarditis, Splenomegaly, Myocarditis, Congestive heart failure, Hepatosplenomega...	ORPHA:3385
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Chikungunya	Raynaud phenomenon, Cervical lymphadenopathy, Epistaxis, Lymphadenopathy	ORPHA:324625
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Tetraamelia Syndrome 1	Asplenia, Microphthalmia	OMIM:273395
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Degcags Syndrome	Tachycardia, Hepatosplenomegaly, Pulmonary arterial hypertension, Abnormal spleen morphology, Pul...	OMIM:619488
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Microphthalmia	ORPHA:1052
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Telangiectasia	OMIM:268400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Aplasia of the thymus, Pulmonary arterial hypertension	OMIM:620186
Cockayne Syndrome	Microphthalmia, Splenomegaly, Hypertension, Retinal hemorrhage	ORPHA:191
Fryns Syndrome	Microphthalmia, Polysplenia	OMIM:229850
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp...	OMIM:619381
Brucellosis	Pericarditis, Transient ischemic attack, Hypersplenism, Splenomegaly, Myocarditis, Lymphadenopath...	ORPHA:1304
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Systemic Lupus Erythematosus	Raynaud phenomenon, Hypertension, Lymphadenopathy	ORPHA:536
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Trichothiodystrophy	Cardiomyopathy, Bilateral microphthalmos	ORPHA:33364
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Adams-Oliver Syndrome 1	Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, Aortic valve st...	OMIM:100300
Mend Syndrome	Microphthalmia, Aortic valve stenosis	ORPHA:401973
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Myhre Syndrome	Microphthalmia, Aortic valve stenosis, Hypertension	OMIM:139210
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Hypertrophic cardiomyopathy	ORPHA:84
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Blau Syndrome	Pericarditis, Splenomegaly, Large vessel vasculitis, Lymphadenopathy, Hypertension, Pulmonary art...	ORPHA:90340
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Yunis-Varon Syndrome	Bilateral microphthalmos, Renovascular hypertension, Hypertension, Pulmonary arterial hypertensio...	ORPHA:3472
Aicardi Syndrome	Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Plague	Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Hypotensio...	ORPHA:707
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Pulmonic stenosis, Microphthalmia, Aortic valve stenosis	OMIM:300166
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Aicardi Syndrome	Microphthalmia	OMIM:304050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Monosomy 9P	Microphthalmia	ORPHA:261112
Fontaine Progeroid Syndrome	Microphthalmia, Tricuspid regurgitation, Pulmonary arterial hypertension	OMIM:612289
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Primary Sjögren Syndrome	Raynaud phenomenon, Vasculitis, Arteritis, Lymphadenopathy	ORPHA:289390
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Igg4-Related Ophthalmic Disease	Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:449563
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Charge Syndrome	Anophthalmia, Unilateral microphthalmos, Pulmonic stenosis, Microphthalmia, Aplasia/Hypoplasia of...	OMIM:214800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Cushing Syndrome Due To Ectopic Acth Secretion	Myocardial infarction, Neoplasm of the thymus, Abnormal lymph node morphology, Hypertension, Capi...	ORPHA:99889
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia, Telangiectasia	OMIM:305600
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Fraser Syndrome 1	Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos	OMIM:219000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Microphthalmia	OMIM:612474
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Hydrolethalus Syndrome 1	Accessory spleen, Microphthalmia	OMIM:236680
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,...	OMIM:175780
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma	OMIM:619539
Branchiooculofacial Syndrome	Microphthalmia, Ectopic thymus tissue, Anophthalmia	OMIM:113620
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Microphthalmia	OMIM:613406
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:235730
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Microphthalmia	OMIM:268300
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Microphthalmia, Aortic valve stenosis, Pulmonic stenosis	ORPHA:261537
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Hyphema, Pulmonic stenosis, Microphthalmia, Aortic valve stenosis	ORPHA:261552
Mowat-Wilson Syndrome	Asplenia, Microphthalmia, Aortic valve stenosis, Pulmonic stenosis	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
Eye - MPATH pathological process term hypoplasia	Morc4^em1(IMPC)Mbp	HEM	Early adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Morc4^em1(IMPC)Mbp	HOM	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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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