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Gene: Trak2 MGI:1918077

Gene Summary

Name:

trafficking protein, kinesin binding 2

Synonyms:

GRIF1, OIP98, Als2cr3, CALS-C, GRIF-1, 4733401O11Rik, 2900022D04Rik

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
decreased thigmotaxis	Trak2^em1(IMPC)Mbp	HOM	Early adult	2.50×10^-13
abnormal skin morphology	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased anxiety-related response	Trak2^em1(IMPC)Mbp	HOM	Early adult	7.18×10^-16
abnormal eye morphology	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal behavior	Trak2^em1(IMPC)Mbp	HOM	Early adult	7.21×10^-15
microphthalmia	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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Human diseases caused by Trak2 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 Trak2 (0 diseases)
Human diseases predicted to be associated with Trak2 (637 diseases)

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

The table below shows human diseases predicted to be associated to Trak2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Kerion Celsi	Lymphadenopathy	ORPHA:499
Gombo Syndrome	Microphthalmia	OMIM:233270
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:619126
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:86893
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia	ORPHA:100083
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microphthalmia	OMIM:274270
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy	OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Mast Cell Sarcoma	Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:66661
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor...	ORPHA:3077
Congenital Toxoplasmosis	Lymphadenopathy, Microphthalmia	ORPHA:858
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:545
Immunodeficiency 27A	Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Anorexia, Enlarged mesenteric lymph node	OMIM:209950
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Pleural Mesothelioma	Dysphagia, Lymphadenopathy	ORPHA:50251
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mmep Syndrome	Microphthalmia	ORPHA:3434
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:391
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Cofs Syndrome	Microphthalmia	ORPHA:1466
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno...	OMIM:615559
Immunodeficiency 64 With Lymphoproliferation	Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade...	OMIM:618534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Rhabdoid Tumor	Lymphadenopathy, Irritability	ORPHA:69077
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy	OMIM:603552
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
17Q12 Microduplication Syndrome	Self-injurious behavior, Microphthalmia	ORPHA:261272
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Splenomegaly, Lymphadenopathy	OMIM:613101
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Developmental And Epileptic Encephalopathy 1	Dysphagia, Microphthalmia	OMIM:308350
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Aggressive behavior, Microphthalmia, Lens coloboma, Motor stereotypy, Im...	OMIM:618914
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Bilateral microphthalmos	ORPHA:77299
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Thyroid Lymphoma	Dysphagia, Lymphadenopathy	ORPHA:97285
Pierpont Syndrome	Microphthalmia	OMIM:602342
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t...	OMIM:602450
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Congenital Rubella Syndrome	Splenomegaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Myoclonic-Astatic Epilepsy	Attention deficit hyperactivity disorder, Abnormal emotion, Hyperactivity, Microphthalmia	ORPHA:1942
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii	Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology	OMIM:612840
Leishmaniasis	Splenomegaly, Lymphadenopathy, Anorexia	ORPHA:507
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Aggressive behavior, Attention deficit hyperactivity disorder, Agitation, Microphthalmia	OMIM:152950
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy...	ORPHA:3392
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy, Irritability	OMIM:257200
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Splenomegaly	OMIM:620282
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Nephroblastoma	Aniridia, Lymphadenopathy	ORPHA:654
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly	OMIM:615085
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Gracile Bone Dysplasia	Asplenia, Aniridia, Hypoplastic spleen, Microphthalmia	OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Anaplastic Thyroid Carcinoma	Dysphagia, Lymphadenopathy	ORPHA:142
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Primary Myelofibrosis	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia	ORPHA:824
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Rere-Related Neurodevelopmental Syndrome	Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Microphthalmia	ORPHA:494344
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Medullary Thyroid Carcinoma	Dysphagia, Lymphadenopathy	ORPHA:1332
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Overfriendliness, Aggressive behavior, Hyperactivity, Restlessness, Agi...	ORPHA:369891
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Lissencephaly 8	Microphthalmia	OMIM:617255
Temtamy Syndrome	Self-mutilation, Microphthalmia	OMIM:218340
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Aregenerative Anemia	Bone marrow hypocellularity, Depression, Emotional lability, Lymphadenopathy	ORPHA:101096
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Congenital Disorder Of Glycosylation, Type Iq	Dysphagia, Microphthalmia	OMIM:612379
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Microphthalmia	OMIM:301108
Lymphoproliferative Syndrome 2	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:615122
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Follicular hyperplasia	OMIM:614470
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Asplenia, Lymphadenopathy	OMIM:614034
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Roifman Syndrome	Splenomegaly, Lymphadenopathy	OMIM:616651
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Roifman Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Aggressive Systemic Mastocytosis	Hypersplenism, Hepatosplenomegaly, Lymphadenopathy, Anorexia	ORPHA:98850
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Agitation	ORPHA:100924
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Combined Immunodeficiency Due To Zap70 Deficiency	Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology	ORPHA:911
Matthew-Wood Syndrome	Abnormal spleen morphology, Anophthalmia, Microphthalmia	ORPHA:2470
Gamma-Heavy Chain Disease	Dysphagia, Splenomegaly, Lymphadenopathy	ORPHA:100026
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Congenital Fibrinogen Deficiency	Splenic rupture, Microphthalmia	ORPHA:335
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Compulsive behaviors, Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:404440
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Dysphagia, Microphthalmia	OMIM:618494
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Moebius Syndrome	Dysphagia, Microphthalmia	OMIM:157900
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:3226
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy	OMIM:603909
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Microcephaly 20, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Compulsive behaviors, Aggressive behavior, Attention deficit hyperactivity disorder, Microphthalmia	OMIM:620098
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy	OMIM:618935
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Norrie Disease	Aggressive behavior, Buphthalmos, Hypoplasia of the iris, Microphthalmia	OMIM:310600
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Trisomy 13	Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia	ORPHA:3378
Immunodeficiency 10	Splenomegaly, Lymphadenopathy, Hypoplasia of the iris	OMIM:612783
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Refsum Disease	Splenomegaly, Microphthalmia	ORPHA:773
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Hypoplasia of the iris	ORPHA:169090
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Legionnaires Disease	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:549
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Microphthalmia	ORPHA:435638
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Griscelli Syndrome	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:381
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia	OMIM:617244
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Lymphadenopathy	OMIM:619644
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Lymphadenopathy	OMIM:308240
Joubert Syndrome 14	Microphthalmia, Irritability	OMIM:614424
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Lymphadenopathy, Irritability	OMIM:267700
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anorexia	ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Acute Promyelocytic Leukemia	Addictive alcohol use, Lymphadenopathy, Anorexia	ORPHA:520
3Q29 Microdeletion Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Depression, Microphthalmia	ORPHA:65286
Hemophagocytic Lymphohistiocytosis, Familial, 2	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irritability	OMIM:603553
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Monosomy 18P	Microphthalmia	ORPHA:1598
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Purine Nucleoside Phosphorylase Deficiency	Lymph node hypoplasia, Splenomegaly	OMIM:613179
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Omenn Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:39041
Graft Versus Host Disease	Hepatosplenomegaly, Lymphadenopathy, Irritability	ORPHA:39812
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Cinca Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:1451
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Hereditary Amyloidosis With Primary Renal Involvement	Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology	ORPHA:85450
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Neuroendocrine Tumor Of The Colon	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100080
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anorexia	ORPHA:139411
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Castleman Disease	Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy	ORPHA:160
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Felty Syndrome	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:47612
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Neuroblastoma	Lymphadenopathy, Irritability	ORPHA:635
Chromosome 13Q33-Q34 Deletion Syndrome	Aggressive behavior, Hyperactivity, Microphthalmia	OMIM:619148
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Lymphoproliferative Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:613011
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	OMIM:301078
Rodrigues Blindness	Microphthalmia	OMIM:268320
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Adult-Onset Still Disease	Bone marrow hypocellularity, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:829
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Omenn Syndrome	Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy	OMIM:603554
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Microphthalmia, Lenz Type	Self-injurious behavior, Microphthalmia	ORPHA:568
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Lymphadenopathy, Anorexia	ORPHA:1333
Waldenström Macroglobulinemia	Splenomegaly, Lymphadenopathy, Anorexia	ORPHA:33226
Tafro Syndrome	Hepatosplenomegaly, Splenomegaly, Lymphadenopathy	ORPHA:457077
Neuroendocrine Tumor Of The Rectum	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100082
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
1Q21.1 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Depression, Microphthalmia	ORPHA:250989
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:809
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Immunodeficiency With Hyper-Igm, Type 1	Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center	OMIM:308230
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat...	ORPHA:50918
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:158061
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:610377
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Lymphadenopathy	ORPHA:540
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Mosaic Trisomy 9	Asplenia, Microphthalmia	ORPHA:99776
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:615895
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability	OMIM:219090
Basel-Vanagaite-Smirin-Yosef Syndrome	Aggressive behavior, Microphthalmia	ORPHA:464738
Chediak-Higashi Syndrome	Macular hypoplasia, Lymphadenopathy, Splenomegaly	OMIM:214500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Q Fever	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia	ORPHA:781
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100086
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Attention deficit hyperactivity disorder, Microphthalmia	OMIM:614083
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Hyper-Igd Syndrome	Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:260920
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Microphthalmia	OMIM:603467
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Micro Syndrome	Microphthalmia	ORPHA:2510
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy	OMIM:617591
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Agitation	OMIM:615688
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Microphthalmia	OMIM:620185
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Lymphatic Filariasis	Lymphadenitis, Lymphadenopathy, Lymphangiectasis, Abnormality of the lymphatic system	ORPHA:2035
Farber Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos	OMIM:601186
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Attention deficit hyperactivity disorder, Microphthalmia	OMIM:227646
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Hallermann-Streiff Syndrome	Hyperactivity, Microphthalmia	OMIM:234100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatosplenomegaly, Absence of lymph node germinal center	ORPHA:79124
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Dubowitz Syndrome	Hypoplasia of the iris, Hyperactivity, Microphthalmia	OMIM:223370
Monosomy 9Q22.3	Hyperactivity, Microphthalmia	ORPHA:77301
Poems Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:2905
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Incontinentia Pigmenti	Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:464
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Anophthalmia, Microphthalmia	ORPHA:2538
Holoprosencephaly	Abnormality of the spleen, Anophthalmia, Microphthalmia	ORPHA:2162
Fraser Syndrome 2	Hypoplasia of the thymus, Microphthalmia	OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Cohen Syndrome	Microphthalmia	ORPHA:193
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Microphthalmia	OMIM:227645
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Asplenia	ORPHA:564
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Mend Syndrome	Aggressive behavior, Hyperactivity, Microphthalmia	ORPHA:401973
Histiocytosis-Lymphadenopathy Plus Syndrome	Cervical lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:602782
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Microphthalmia	OMIM:607323
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Frontorhiny	Microphthalmia	ORPHA:391474
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Lymphadenopathy	ORPHA:98849
H Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:168569
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Familial Mediterranean Fever	Splenomegaly, Depression, Lymphadenopathy	ORPHA:342
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia	OMIM:619418
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
22Q11.2 Deletion Syndrome	Depression, Splenomegaly, Hypoplasia of the thymus, Attention deficit hyperactivity disorder, Abn...	ORPHA:567
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Fryns Syndrome	Microphthalmia	ORPHA:2059
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Depression, Attention deficit hyperactivity disorder, Microphthalmia, Co...	ORPHA:534
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Motor stereotypy, Microphthalmia	ORPHA:508498
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Chikungunya	Cervical lymphadenopathy, Depression, Lymphadenopathy	ORPHA:324625
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Congenital Syphilis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Optic nerve hypoplasia, Microphthalmia	OMIM:236670
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37042
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Microphthalmia	OMIM:620005
Vacterl With Hydrocephalus	Anophthalmia, Microphthalmia	ORPHA:3412
Cockayne Syndrome B	Hypoplasia of the iris, Splenomegaly, Microphthalmia	OMIM:133540
Hennekam Syndrome	Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia	ORPHA:2136
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Treacher-Collins Syndrome	Hypoplasia of the thymus, Microphthalmia	ORPHA:861
Behçet Disease	Splenomegaly, Lymphadenopathy, Irritability, Anorexia	ORPHA:117
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Degcags Syndrome	Oral-pharyngeal dysphagia, Hepatosplenomegaly, Abnormal spleen morphology, Microphthalmia, Chokin...	OMIM:619488
Trisomy 18	Microphthalmia	ORPHA:3380
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Attention deficit hyperactivity disorder, Microphthalmia	OMIM:616975
Cousin Syndrome	Microphthalmia	OMIM:260660
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Systemic Lupus Erythematosus	Depression, Lymphadenopathy, Anorexia	ORPHA:536
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Cockayne Syndrome Type 3	Splenomegaly, Microphthalmia	ORPHA:90324
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Hypersplenism, Chronic noninfectious lymphadenopathy, Splenomegaly, ...	ORPHA:3261
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Motor stereotypy, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Multiple Myeloma	Splenomegaly, Lymphadenopathy	ORPHA:29073
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Brucellosis	Depression, Hypersplenism, Splenomegaly, Lymphadenopathy, Anorexia	ORPHA:1304
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
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	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Immunodeficiency 31C	Splenomegaly, Lymphadenopathy	OMIM:614162
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Chédiak-Higashi Syndrome	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	ORPHA:167
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system	ORPHA:538
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Splenomegaly, Microphthalmia	OMIM:249000
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Fryns Syndrome	Polysplenia, Microphthalmia	OMIM:229850
Coccidioidomycosis	Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:228123
Tangier Disease	Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy	ORPHA:31150
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Norrie Disease	Self-injurious behavior, Hypoplasia of the iris, Irritability, Attention deficit hyperactivity di...	ORPHA:649
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Charge Syndrome	Anophthalmia, Attention deficit hyperactivity disorder, Microphthalmia, Compulsive behaviors, Dys...	ORPHA:138
Histiocytoid Cardiomyopathy	Congenital aphakia, Microphthalmia	ORPHA:137675
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Cockayne Syndrome	Splenomegaly, Microphthalmia	ORPHA:191
Tetraamelia Syndrome 1	Asplenia, Microphthalmia	OMIM:273395
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Lymphadenopathy, Follicular hyperplasia, Anorexia	OMIM:619381
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353281
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Microphthalmia	OMIM:620186
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Anorexia	OMIM:181000
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Crimean-Congo Hemorrhagic Fever	Splenomegaly, Emotional lability, Lymphadenopathy, Anorexia, Agitation	ORPHA:99827
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:32960
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Microphthalmia	ORPHA:2526
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Cushing Syndrome Due To Ectopic Acth Secretion	Depression, Abnormal lymph node morphology, Neoplasm of the thymus, Emotional lability, Anorexia	ORPHA:99889
Primary Sjögren Syndrome	Depression, Lymphadenopathy	ORPHA:289390
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:84
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Charge Syndrome	Aplasia/Hypoplasia of the thymus, Unilateral microphthalmos, Anophthalmia, Self-mutilation, Micro...	OMIM:214800
Marburg Hemorrhagic Fever	Aggressive behavior, Lymphadenopathy, Anorexia	ORPHA:99826
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Motor stereotypy, Microphthalmia	OMIM:612474
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Motor stereotypy, Microphthalmia	OMIM:309000
Aicardi Syndrome	Microphthalmia	OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Monosomy 9P	Microphthalmia	ORPHA:261112
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Myhre Syndrome	Microphthalmia	OMIM:139210
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Lymphadenopathy	ORPHA:667
African Trypanosomiasis	Hepatosplenomegaly, Splenomegaly, Irritability, Aggressive behavior, Lymphadenopathy	ORPHA:3385
Neuroocular Syndrome 1	Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Lens coloboma, Microphthalmia	OMIM:619539
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microphthalmia, Syndromic 2	Phthisis bulbi, Anophthalmia, Microphthalmia	OMIM:300166
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353277
Witteveen-Kolk Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Microphthalmia	OMIM:613406
Igg4-Related Kidney Disease	Lymphadenitis, Lymphadenopathy	ORPHA:449395
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Low frustration tolerance, Hyperactivity, Tics, Dysphagia, Optic nerve ...	ORPHA:508488
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Holoprosencephaly 9	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Leptospirosis	Lymphadenopathy, Anorexia	ORPHA:509
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Sarcoidosis	Lymphadenopathy, Abnormal lymph node morphology	ORPHA:797
Fraser Syndrome 1	Abnormal thymus morphology, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:256040
Hydrolethalus Syndrome 1	Accessory spleen, Microphthalmia	OMIM:236680
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Focal Dermal Hypoplasia	Aniridia, Anophthalmia, Microphthalmia	OMIM:305600
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy	ORPHA:79078
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Branchiooculofacial Syndrome	Ectopic thymus tissue, Anophthalmia, Microphthalmia	OMIM:113620
Igg4-Related Ophthalmic Disease	Lymphadenopathy	ORPHA:449563
Blau Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:90340
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Pallister-Hall Syndrome	Paroxysmal bursts of laughter, Microphthalmia	ORPHA:672
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bruxism, Dysphagia, Microphthalmia, Asplenia, Motor stereotypy	ORPHA:261537
Mowat-Wilson Syndrome	Bruxism, Dysphagia, Microphthalmia, Asplenia, Motor stereotypy	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bruxism, Dysphagia, Microphthalmia, Asplenia, Motor stereotypy	ORPHA:261552
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Microphthalmia	OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 1	Aggressive behavior, Anophthalmia, Self-mutilation, Microphthalmia	OMIM:309800
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia	OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Trak2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Trak2.

No publications found that use IMPC mice or data for Trak2.

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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
Trak2^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trak2^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Trak2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Trak2 MGI:1918077

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Trak2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data