Gene Summary

Name:
trafficking protein, kinesin binding 2
Synonyms:
GRIF-1,  CALS-C,  OIP98,  GRIF1,  4733401O11Rik,  Als2cr3,  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 lymph node morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Trak2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Trak2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Dorso Ventral

45 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 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
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
Mediastinal lymphadenopathy, Follicular hyperplasia 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
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Kerion Celsi
Lymphadenopathy ORPHA:499
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Apolipoprotein A-I Deficiency
Lymphadenopathy, Splenomegaly ORPHA:425
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia 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
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Splenomegaly OMIM:608971
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
T-Cell Receptor-Alpha/Beta Deficiency
Lymphadenopathy OMIM:615387
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Nanophthalmos
Microphthalmia ORPHA:35612
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:66661
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Mmep Syndrome
Microphthalmia ORPHA:3434
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Congenital Toxoplasmosis
Microphthalmia, Lymphadenopathy ORPHA:858
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 64
Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphade... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Splenomegaly, Mediastinal lymphadenopathy, H... OMIM:615559
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Lcat Deficiency
Lymphadenopathy, Splenomegaly ORPHA:650
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Cofs Syndrome
Microphthalmia ORPHA:1466
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly ORPHA:290
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Pierpont Syndrome
Microphthalmia ORPHA:487825
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Pierpont Syndrome
Microphthalmia OMIM:602342
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Tularemia
Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Lymphadenopathy, Cervica... ORPHA:3392
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Microphthalmia, Asplenia OMIM:602361
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Matthew-Wood Syndrome
Abnormal spleen morphology, Microphthalmia, Anophthalmia ORPHA:2470
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Temtamy Syndrome
Microphthalmia ORPHA:1777
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Joubert Syndrome 22
Microphthalmia OMIM:615665
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes, Lymphadenopathy ORPHA:911
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:618935
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Lymphadenopathy, Splenomegaly ORPHA:169090
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture ORPHA:335
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:603909
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Monosomy 18P
Microphthalmia ORPHA:1598
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Microphthalmia OMIM:614083
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Seckel Syndrome 2
Microphthalmia OMIM:606744
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Joubert Syndrome 14
Microphthalmia OMIM:614424
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Autoimmune Lymphoproliferative Syndrome, Type V
Lymphadenopathy, Splenomegaly OMIM:616100
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia ORPHA:163649
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Rodrigues Blindness
Microphthalmia OMIM:268320
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Lymphadenopathy ORPHA:98850
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Moebius Syndrome
Microphthalmia OMIM:157900
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly ORPHA:829
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:809
Thymoma
Neoplasm of the thymus, Lymphadenopathy ORPHA:99867
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Castleman Disease
Mediastinal lymphadenopathy, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Lassa Fever
Lymphadenopathy ORPHA:99824
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Chediak-Higashi Syndrome
Macular hypoplasia, Lymphadenopathy, Splenomegaly OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Hepatosplenomegaly, Generalized lymphadenopathy OMIM:618986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:260920
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Mosaic Trisomy 9
Asplenia, Microphthalmia ORPHA:99776
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy OMIM:142680
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microphthalmia OMIM:243605
Mevalonic Aciduria
Hepatosplenomegaly, Fluctuating splenomegaly, Lymphadenopathy OMIM:610377
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Papillorenal Syndrome
Microphthalmia OMIM:120330
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Microphthalmia OMIM:603467
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy ORPHA:514
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Bilateral microphthalmos, Anophthalmia OMIM:601186
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Joubert Syndrome 2
Microphthalmia OMIM:608091
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Micro Syndrome
Microphthalmia ORPHA:2510
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:603553
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the iris, Asplenia, Microphthalmia, Anophthalmia ORPHA:564
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Microphthalmia OMIM:227645
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Cat Eye Syndrome
Microphthalmia OMIM:115470
Holoprosencephaly
Abnormality of the spleen, Microphthalmia, Anophthalmia ORPHA:2162
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Phthisis bulbi, Microphthalmia OMIM:221900
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphadenopathy OMIM:602782
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Abnormality of the lymph nodes, Lymphadenopathy, Cervi... ORPHA:50918
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Frontorhiny
Microphthalmia ORPHA:391474
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Cousin Syndrome
Microphthalmia OMIM:260660
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy ORPHA:100080
Cohen Syndrome
Microphthalmia ORPHA:193
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Microphthalmia, Anophthalmia ORPHA:2538
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Cherubism
Submandibular lymph node enlargement OMIM:118400
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Microphthalmia OMIM:227646
Fryns Syndrome
Microphthalmia ORPHA:2059
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Q Fever
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:781
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Splenomegaly OMIM:133540
Meckel Syndrome, Type 1
Asplenia, Accessory spleen, Microphthalmia, Splenomegaly OMIM:249000
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:615688
Tangier Disease
Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatosplenomegaly ORPHA:31150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Tetraamelia Syndrome 1
Asplenia, Microphthalmia OMIM:273395
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Treacher-Collins Syndrome
Hypoplasia of the thymus, Microphthalmia ORPHA:861
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy ORPHA:100082
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Trisomy 18
Microphthalmia ORPHA:3380
Isolated Arrhinia
Microphthalmia ORPHA:1134
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Bone marrow hypocellularity, ... ORPHA:3261
Hennekam Syndrome
Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy, Splenomegaly ORPHA:2136
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Bone marrow hypocellularity, Lymphadenopathy,... ORPHA:2442
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:167
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the tonsils, Microphthalmia, Splenomegaly ORPHA:567
Hemifacial Microsomia
Microphthalmia, Anophthalmia OMIM:164210
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Microphthalmia ORPHA:959
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Coccidioidomycosis
Mediastinal lymphadenopathy, Abnormality of the spleen, Lymphadenopathy ORPHA:228123
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Steinfeld Syndrome
Microphthalmia OMIM:184705
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Fryns Syndrome
Polysplenia, Microphthalmia OMIM:229850
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Cockayne Syndrome
Microphthalmia, Splenomegaly ORPHA:191
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801