Gene Summary

Name:
trafficking protein, kinesin binding 2
Synonyms:
GRIF1,  OIP98,  Als2cr3,  CALS-C,  GRIF-1,  4733401O11Rik,  2900022D04Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Trak2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Trak2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Nanophthalmos 4
Microphthalmia OMIM:615972
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Kerion Celsi
Lymphadenopathy ORPHA:499
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Nanophthalmos
Microphthalmia ORPHA:35612
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Mmep Syndrome
Microphthalmia ORPHA:3434
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Congenital Primary Aphakia
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Congenital Toxoplasmosis
Lymphadenopathy, Microphthalmia ORPHA:858
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... OMIM:618534
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphadenopathy, Generalize... OMIM:615559
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Immunodeficiency 10
Lymphadenopathy, Hypoplasia of the iris OMIM:612783
Cofs Syndrome
Microphthalmia ORPHA:1466
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Nephroblastoma
Lymphadenopathy, Aniridia ORPHA:654
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly ORPHA:290
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Pierpont Syndrome
Microphthalmia ORPHA:487825
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pierpont Syndrome
Microphthalmia OMIM:602342
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Asplenia, Microphthalmia OMIM:602361
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Tularemia
Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal a... ORPHA:3392
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Temtamy Syndrome
Microphthalmia ORPHA:1777
Lissencephaly 8
Microphthalmia OMIM:617255
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Matthew-Wood Syndrome
Abnormal spleen morphology, Anophthalmia, Microphthalmia ORPHA:2470
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Joubert Syndrome 22
Microphthalmia OMIM:615665
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:911
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture ORPHA:335
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hypoplasia of the iris, Splenomegaly ORPHA:169090
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:618935
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Seckel Syndrome 2
Microphthalmia OMIM:606744
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Anterior Segment Dysgenesis 2
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia OMIM:610256
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Joubert Syndrome 14
Microphthalmia OMIM:614424
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Monosomy 18P
Microphthalmia ORPHA:1598
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Joubert Syndrome 37
Microphthalmia OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:619802
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Rodrigues Blindness
Microphthalmia OMIM:268320
Moebius Syndrome
Microphthalmia OMIM:157900
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:85450
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Castleman Disease
Generalized lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils OMIM:606367
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Stromme Syndrome
Optic nerve hypoplasia, Accessory spleen, Microphthalmia OMIM:243605
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Chediak-Higashi Syndrome
Macular hypoplasia, Lymphadenopathy, Splenomegaly OMIM:214500
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Hepatosplenomegaly OMIM:618986
Norrie Disease
Buphthalmos, Hypoplasia of the iris, Microphthalmia OMIM:310600
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Mosaic Trisomy 9
Asplenia, Microphthalmia ORPHA:99776
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:260920
Mevalonic Aciduria
Hepatosplenomegaly, Lymphadenopathy, Fluctuating splenomegaly OMIM:610377
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Microphthalmia OMIM:603467
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:603553
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Micro Syndrome
Microphthalmia ORPHA:2510
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia ORPHA:91495
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Lymphatic Filariasis
Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Kikuchi-Fujimoto Disease
Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat... ORPHA:50918
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Meckel Syndrome
Accessory spleen, Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris, Asplenia ORPHA:564
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Microphthalmia OMIM:227645
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Holoprosencephaly
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2162
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:602782
Poems Syndrome
Lymphadenopathy ORPHA:2905
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Frontorhiny
Microphthalmia ORPHA:391474
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2538
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia OMIM:206900
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Lymphadenopathy, Splenomegaly OMIM:619418
Cohen Syndrome
Microphthalmia ORPHA:193
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Q Fever
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:781
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Macular hypoplasia, Microphthalmia OMIM:612109
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Joubert Syndrome 2
Microphthalmia OMIM:608091
Fryns Syndrome
Microphthalmia ORPHA:2059
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Cousin Syndrome
Microphthalmia OMIM:260660
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Meckel Syndrome 14
Microphthalmia OMIM:619879
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Microphthalmia OMIM:620005
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Microphthalmia OMIM:614083
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Papillorenal Syndrome
Microphthalmia OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Pierson Syndrome
Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... OMIM:609049
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615688
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Microphthalmia OMIM:227646
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Cherubism
Submandibular lymph node enlargement OMIM:118400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Splenomegaly OMIM:133540
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Treacher-Collins Syndrome
Hypoplasia of the thymus, Microphthalmia ORPHA:861
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Orange discolored tonsils ORPHA:31150
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Lymphadenopathy... ORPHA:3261
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Trisomy 18
Microphthalmia ORPHA:3380
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Tetraamelia Syndrome 1
Asplenia, Microphthalmia OMIM:273395
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Bone marrow hypocel... ORPHA:2442
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphangioma, Lymphadenopathy, Splenomegaly ORPHA:2136
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Isolated Arrhinia
Microphthalmia ORPHA:1134
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:167
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Meckel Syndrome, Type 1
Accessory spleen, Microphthalmia, Asplenia, Splenomegaly OMIM:249000
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Hypoplasia of the thymus, Microphthalmia, Splenomegaly ORPHA:567
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Cat Eye Syndrome
Microphthalmia OMIM:115470
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Coccidioidomycosis
Abnormality of the spleen, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016