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
microphthalmia Trak2em1(IMPC)Mbp HOM Early adult 0.00
abnormal behavior Trak2em1(IMPC)Mbp HOM Early adult 2.02×10-13
abnormal lymph node morphology 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
decreased anxiety-related response Trak2em1(IMPC)Mbp HOM Early adult 6.42×10-16
abnormal skin morphology Trak2em1(IMPC)Mbp HOM Early adult 0.00
decreased thigmotaxis Trak2em1(IMPC)Mbp HOM Early adult 1.79×10-13

Download data as:  TSV  XLS

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