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
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
microphthalmia Trak2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node 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
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
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
Splenomegaly, Lymphadenopathy ORPHA:52416
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Kerion Celsi
Lymphadenopathy ORPHA:499
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Gombo Syndrome
Microphthalmia OMIM:233270
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
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Nanophthalmos
Microphthalmia ORPHA:35612
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy 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
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
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy 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
Microphthalmia, Lymphadenopathy ORPHA:858
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:98293
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
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 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen ORPHA:543
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 64
Hepatosplenomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadeno... OMIM:615559
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Immunodeficiency 10
Lymphadenopathy, Hypoplasia of the iris OMIM:612783
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Cofs Syndrome
Microphthalmia ORPHA:1466
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:209950
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of the lymph nodes, Hepatosplenomegaly, Splenomegaly OMIM:612840
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris, Splenomegaly ORPHA:290
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Aplasia/Hypoplasia of t... ORPHA:137902
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Pierpont Syndrome
Microphthalmia ORPHA:487825
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Pierpont Syndrome
Microphthalmia OMIM:602342
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Gracile Bone Dysplasia
Hypoplastic spleen, Microphthalmia, Asplenia, Aniridia OMIM:602361
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Tularemia
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Cervica... ORPHA:3392
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Microphthalmia, Isolated 8
Microphthalmia, Optic nerve hypoplasia OMIM:615113
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Anterior Segment Dysgenesis 7
Microphthalmia, Buphthalmos OMIM:269400
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Cervical lymphadenopathy, Asplenia OMIM:614034
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the lymphatic system ORPHA:54251
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Abnormal spleen morphology ORPHA:2470
Temtamy Syndrome
Microphthalmia ORPHA:1777
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Anterior Segment Dysgenesis 5
Microphthalmia, Rieger anomaly, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Joubert Syndrome 22
Microphthalmia OMIM:615665
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormality of the lymph nodes, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture ORPHA:335
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris ORPHA:169090
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Bilateral microphthalmos, Macular hyp... ORPHA:2334
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618935
Anterior Segment Dysgenesis 2
Congenital aphakia, Aniridia, Microphthalmia, Anterior segment of eye aplasia OMIM:610256
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:3226
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:603909
Trisomy 13
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Seckel Syndrome 2
Microphthalmia OMIM:606744
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia, Bone marrow hypocellularity OMIM:609053
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Griscelli Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:381
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Fanconi Anemia, Complementation Group L
Microphthalmia, Bone marrow hypocellularity OMIM:614083
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Primary Myelofibrosis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:824
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Joubert Syndrome 14
Microphthalmia OMIM:614424
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Joubert Syndrome 37
Microphthalmia OMIM:619185
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Felty Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:47612
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Rodrigues Blindness
Microphthalmia OMIM:268320
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Moebius Syndrome
Microphthalmia OMIM:157900
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils OMIM:308230
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Legionnaires Disease
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:549
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:809
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Bilateral microphthalmos OMIM:600122
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Buphthalmos OMIM:616538
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy OMIM:614700
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Accessory spleen OMIM:243605
Chediak-Higashi Syndrome
Macular hypoplasia, Splenomegaly, Lymphadenopathy OMIM:214500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Microphthalmia OMIM:600123
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Lymphadenitis, Generalized lymphadenopathy OMIM:618986
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Mosaic Trisomy 9
Microphthalmia, Asplenia ORPHA:99776
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:260920
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233710
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Fanconi Anemia, Complementation Group F
Microphthalmia, Bone marrow hypocellularity OMIM:603467
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microphthalmia, Syndromic 9
Hypoplastic spleen, Bilateral microphthalmos, Multilobulated spleen, Anophthalmia OMIM:601186
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233690
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:603553
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Buphthalmos ORPHA:91495
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Cat Eye Syndrome
Microphthalmia OMIM:115470
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Micro Syndrome
Microphthalmia ORPHA:2510
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Lymphatic Filariasis
Lymphangiectasis, Abnormality of the lymphatic system, Lymphadenitis, Lymphadenopathy ORPHA:2035
Papillorenal Syndrome
Microphthalmia OMIM:120330
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Phthisis bulbi, Buphthalmos OMIM:221900
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Meckel Syndrome
Anophthalmia, Accessory spleen, Microphthalmia, Aplasia/Hypoplasia of the iris, Asplenia ORPHA:564
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Fanconi Anemia, Complementation Group C
Microphthalmia, Bone marrow hypocellularity OMIM:227645
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Kikuchi-Fujimoto Disease
Splenomegaly, Cervical lymphadenopathy, Generalized lymphadenopathy, Lymphadenopathy, Abnormality... ORPHA:50918
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Subaortic Stenosis--Short Stature Syndrome
Microphthalmia OMIM:271960
Holoprosencephaly
Microphthalmia, Anophthalmia, Abnormality of the spleen ORPHA:2162
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Buphthalmos OMIM:613150
Frontorhiny
Microphthalmia ORPHA:391474
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Cervical lymphadenopathy OMIM:602782
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia OMIM:206900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Joubert Syndrome 2
Microphthalmia OMIM:608091
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Oculoauricular Syndrome
Microphthalmia, Microphakia, Macular hypoplasia, Phthisis bulbi OMIM:612109
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Abnormality of the spleen ORPHA:2538
Q Fever
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:781
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Cohen Syndrome
Microphthalmia ORPHA:193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:306400
Meckel Syndrome, Type 1
Microphthalmia, Splenomegaly, Asplenia, Accessory spleen OMIM:249000
Cousin Syndrome
Microphthalmia OMIM:260660
Fryns Syndrome
Microphthalmia ORPHA:2059
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris ORPHA:2092
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Polysplenia, Splenomegaly, Lymphadenopathy, Accessory spleen OMIM:619418
Pierson Syndrome
Hypoplasia of the ciliary body, Hypoplasia of the iris, Microphthalmia, Rieger anomaly, Macular h... OMIM:609049
Fanconi Anemia, Complementation Group D2
Microphthalmia, Bone marrow hypocellularity OMIM:227646
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Optic nerve hypoplasia, Buphthalmos OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Cherubism
Submandibular lymph node enlargement OMIM:118400
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris OMIM:223370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Treacher-Collins Syndrome
Hypoplasia of the thymus, Microphthalmia ORPHA:861
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Cockayne Syndrome B
Microphthalmia, Splenomegaly, Hypoplasia of the iris OMIM:133540
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity OMIM:615688
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Orange discolored tonsils ORPHA:31150
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Trisomy 18
Microphthalmia ORPHA:3380
Tetraamelia Syndrome 1
Microphthalmia, Asplenia OMIM:273395
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Isolated Arrhinia
Microphthalmia ORPHA:1134
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:167
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Splenomegaly, Chronic noninfectious lymphadenopathy, Lymphadenopathy... ORPHA:3261
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Lymphadenopathy, Pulmonary lymphangiomyomatosis ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Splenomegaly ORPHA:2136
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Incontinentia Pigmenti
Microphthalmia ORPHA:464
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Bone marrow hypocellularity, Splenomegaly, Cervical lymphadenopathy, Enlarged... ORPHA:2442
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Microphthalmia, Splenomegaly, Hypoplasia of the thymus ORPHA:567
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Steinfeld Syndrome
Microphthalmia OMIM:184705
Basal Cell Nevus Syndrome
Microphthalmia OMIM:109400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Fryns Syndrome
Microphthalmia, Polysplenia OMIM:229850
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Cockayne Syndrome
Microphthalmia, Splenomegaly ORPHA:191
Degcags Syndrome
Microphthalmia, Hepatosplenomegaly, Abnormal spleen morphology OMIM:619488
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Histiocytoid Cardiomyopathy
Congenital aphakia, Microphthalmia ORPHA:137675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart