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Gene: Trak2 MGI:1918077

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased anxiety-related response Trak2em1(IMPC)Mbp HOM Early adult 4.12×10-16
abnormal eye morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Trak2em1(IMPC)Mbp HOM Early adult 3.15×10-15
abnormal behavior Trak2em1(IMPC)Mbp HOM Early adult 3.69×10-15
enlarged lymph nodes 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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Human diseases caused by Trak2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
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
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Kerion Celsi
Lymphadenopathy ORPHA:499
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly OMIM:619126
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos 4
Microphthalmia OMIM:615972
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mast Cell Sarcoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Congenital Toxoplasmosis
Lymphadenopathy, Microphthalmia ORPHA:858
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Mmep Syndrome
Microphthalmia ORPHA:3434
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:300853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:240500
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Rhabdoid Tumor
Lymphadenopathy, Irritability ORPHA:69077
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Mediast... OMIM:615559
Cofs Syndrome
Microphthalmia ORPHA:1466
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splen... OMIM:618534
Microphthalmia-Brain Atrophy Syndrome
Inappropriate crying, Bilateral microphthalmos ORPHA:77299
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:613101
17Q12 Microduplication Syndrome
Self-injurious behavior, Microphthalmia ORPHA:261272
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly OMIM:209950
Pierpont Syndrome
Microphthalmia ORPHA:487825
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Splenomegaly ORPHA:290
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Pierpont Syndrome
Microphthalmia OMIM:602342
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... OMIM:602450
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Isolated Optic Nerve Hypoplasia/Aplasia
Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalmos, Optic nerve hyp... ORPHA:137902
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Niemann-Pick Disease, Type A
Lymphadenopathy, Irritability, Splenomegaly OMIM:257200
Nephroblastoma
Lymphadenopathy, Aniridia ORPHA:654
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly OMIM:615085
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Aggressive behavior, Self-injurious behavior, Microphthalmia, Lens coloboma OMIM:618914
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Aregenerative Anemia
Emotional lability, Lymphadenopathy, Bone marrow hypocellularity, Depression ORPHA:101096
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Microphthalmia, Aniridia OMIM:602361
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Temtamy Syndrome
Microphthalmia ORPHA:1777
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Temtamy Syndrome
Self-mutilation, Microphthalmia OMIM:218340
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Aggressive behavior, Microphthalmia OMIM:152950
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Microphthalmia ORPHA:1942
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Lissencephaly 8
Microphthalmia OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Lymphoproliferative Syndrome 2
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:615122
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Heme Oxygenase 1 Deficiency
Asplenia, Lymphadenopathy, Cervical lymphadenopathy OMIM:614034
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Joubert Syndrome 22
Microphthalmia OMIM:615665
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
3Q29 Microdeletion Syndrome
Aggressive behavior, Bipolar affective disorder, Microphthalmia, Depression, Anxiety ORPHA:65286
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system ORPHA:54251
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Microphthalmia ORPHA:494344
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly ORPHA:911
Matthew-Wood Syndrome
Microphthalmia, Abnormal spleen morphology, Anophthalmia ORPHA:2470
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia OMIM:604229
Congenital Fibrinogen Deficiency
Splenic rupture, Microphthalmia ORPHA:335
Immunodeficiency 7
Lymphadenopathy, Splenomegaly OMIM:615387
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Anxiety ORPHA:404440
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:3226
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Aggressive behavior, Microphthalmia OMIM:310600
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618935
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Lymphadenopathy, Splenomegaly ORPHA:169090
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Griscelli Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:381
Fanconi Anemia, Complementation Group I
Microphthalmia, Bone marrow hypocellularity, Optic nerve hypoplasia OMIM:609053
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Seckel Syndrome 2
Microphthalmia OMIM:606744
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Autosomal Dominant Keratitis
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... ORPHA:2334
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Joubert Syndrome 14
Irritability, Microphthalmia OMIM:614424
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Irritability, Splenomegaly OMIM:267700
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Aggressive behavior, Microphthalmia OMIM:620098
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Aggressive behavior ORPHA:369891
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Joubert Syndrome 37
Microphthalmia OMIM:619185
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Monosomy 18P
Microphthalmia ORPHA:1598
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Irritability, Splenomegaly, Hepatosplenomegaly OMIM:603553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Primary Myelofibrosis
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:824
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly OMIM:619802
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia OMIM:610256
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Moebius Syndrome
Microphthalmia OMIM:157900
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Felty Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:47612
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Graft Versus Host Disease
Lymphadenopathy, Irritability, Hepatosplenomegaly ORPHA:39812
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy ORPHA:97289
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Castleman Disease
Lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Mediastinal lymphadenopathy ORPHA:160
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Rodrigues Blindness
Microphthalmia OMIM:268320
Klatskin Tumor
Lymphadenopathy ORPHA:99978
1Q21.1 Microdeletion Syndrome
Microphthalmia, Depression, Anxiety ORPHA:250989
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity OMIM:301078
Chromosome 13Q33-Q34 Deletion Syndrome
Aggressive behavior, Microphthalmia OMIM:619148
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Omenn Syndrome
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Microphthalmia, Lenz Type
Self-injurious behavior, Microphthalmia ORPHA:568
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Legionnaires Disease
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:549
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Enlarged tonsils, Hepatosplenomegaly OMIM:606367
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Mixed Connective Tissue Disease
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:809
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Stromme Syndrome
Microphthalmia, Accessory spleen, Optic nerve hypoplasia OMIM:243605
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy OMIM:614700
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Mevalonic Aciduria
Lymphadenopathy, Fluctuating splenomegaly, Hepatosplenomegaly OMIM:610377
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Mosaic Trisomy 9
Asplenia, Microphthalmia ORPHA:99776
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Chediak-Higashi Syndrome
Macular hypoplasia, Lymphadenopathy, Splenomegaly OMIM:214500
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Basel-Vanagaite-Smirin-Yosef Syndrome
Aggressive behavior, Microphthalmia ORPHA:464738
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:260920
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Micro Syndrome
Microphthalmia ORPHA:2510
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Fanconi Anemia, Complementation Group F
Microphthalmia, Bone marrow hypocellularity OMIM:603467
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Hypoplastic spleen, Multilobulated spleen, Anophthalmia OMIM:601186
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Chikungunya
Lymphadenopathy, Diminished motivation, Depression, Cervical lymphadenopathy ORPHA:324625
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Nance-Horan Syndrome
Microphthalmia OMIM:302350
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Anxiety, Bipolar affective disorder, Microphthalmia, Depression, Abnorm... ORPHA:567
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Generalized lymphadenopathy, Lymphadenopathy, Cervical lymphadeno... ORPHA:50918
Persistent Hyperplastic Primary Vitreous
Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi ORPHA:91495
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Holoprosencephaly
Abnormality of the spleen, Microphthalmia, Anophthalmia ORPHA:2162
Cohen Syndrome
Microphthalmia ORPHA:193
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Fanconi Anemia, Complementation Group C
Microphthalmia, Bone marrow hypocellularity OMIM:227645
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Meckel Syndrome
Asplenia, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Accessory spleen ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:602782
Frontorhiny
Microphthalmia ORPHA:391474
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Poems Syndrome
Lymphadenopathy ORPHA:2905
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Polysplenia, Lymphadenopathy, Accessory spleen, Splenomegaly OMIM:619418
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
H Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Joubert Syndrome 2
Microphthalmia OMIM:608091
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Fryns Syndrome
Microphthalmia ORPHA:2059
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Papillorenal Syndrome
Microphthalmia OMIM:120330
Q Fever
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Mend Syndrome
Aggressive behavior, Microphthalmia ORPHA:401973
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Meckel Syndrome 14
Microphthalmia OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia OMIM:612109
Fanconi Anemia, Complementation Group L
Microphthalmia, Bone marrow hypocellularity OMIM:614083
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Buphthalmos, Microphthalmia, Depression, Anxiety ORPHA:534
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Fanconi Anemia, Complementation Group D2
Microphthalmia, Bone marrow hypocellularity OMIM:227646
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatosplenomegaly OMIM:615688
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Accessory spleen OMIM:620005
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Cervical lymphadenopathy OMIM:617718
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Treacher-Collins Syndrome
Hypoplasia of the thymus, Microphthalmia ORPHA:861
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Splenomegaly, Lymphangioma ORPHA:2136
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Cockayne Syndrome B
Microphthalmia, Hypoplasia of the iris, Splenomegaly OMIM:133540
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus, Suicidal ideation, Anxiety, Emotional lab... ORPHA:99889
Trisomy 18
Microphthalmia ORPHA:3380
Autoimmune Lymphoproliferative Syndrome
Hypersplenism, Lymphadenopathy, Bone marrow hypocellularity, Chronic noninfectious lymphadenopath... ORPHA:3261
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Cousin Syndrome
Microphthalmia OMIM:260660
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasia, Hypoplasia of the iris, Micro... OMIM:609049
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Chédiak-Higashi Syndrome
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:167
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Meckel Syndrome, Type 1
Microphthalmia, Asplenia, Accessory spleen, Splenomegaly OMIM:249000
Jacobsen Syndrome
Macular hypoplasia, Microphthalmia OMIM:147791
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Tangier Disease
Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatosplenomegaly ORPHA:31150
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Brucellosis
Hypersplenism, Lymphadenopathy, Splenomegaly, Depression ORPHA:1304
Behçet Disease