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Gene: Pvrig MGI:5596028

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Gene Summary

Name:
poliovirus receptor related immunoglobulin domain containing
Synonyms:
Gm36869

Order Alleles

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
enlarged lymph nodes Pvrigem1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Pvrigem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Pvrigem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Pvrigem1(IMPC)Mbp HOM Early adult 0.00

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

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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Human diseases caused by Pvrig 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 Pvrig by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Gombo Syndrome
Microphthalmia OMIM:233270
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos 4
Microphthalmia OMIM:615972
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... OMIM:240500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 18
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... OMIM:615615
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Congenital Toxoplasmosis
Lymphadenopathy, Microphthalmia ORPHA:858
Mmep Syndrome
Microphthalmia ORPHA:3434
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:607594
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
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
Decreased T cell activation, Decreased CD69 upregulation upon TCR activation, Decreased specific ... OMIM:300853
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno... OMIM:615559
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Cofs Syndrome
Microphthalmia ORPHA:1466
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly OMIM:615085
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia ORPHA:290
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Pierpont Syndrome
Microphthalmia ORPHA:487825
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Gracile Bone Dysplasia
Asplenia, Aniridia, Hypoplastic spleen, Microphthalmia OMIM:602361
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Pierpont Syndrome
Microphthalmia OMIM:602342
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Microphthalmia OMIM:301108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Matthew-Wood Syndrome
Abnormal spleen morphology, Anophthalmia, Microphthalmia ORPHA:2470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Lymphadenopathy OMIM:614034
Lissencephaly 8
Microphthalmia OMIM:617255
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Joubert Syndrome 22
Microphthalmia OMIM:615665
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons... OMIM:600802
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Congenital Fibrinogen Deficiency
Splenic rupture, Microphthalmia ORPHA:335
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:603909
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Papa Syndrome
Lymphadenopathy ORPHA:69126
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Microphthalmia OMIM:617244
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris ORPHA:169090
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Immunodeficiency 10
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:85194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Refsum Disease
Splenomegaly, Microphthalmia ORPHA:773
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:572
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:3378
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:824
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Microphthalmia OMIM:609053
Seckel Syndrome 2
Microphthalmia OMIM:606744
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Joubert Syndrome 37
Microphthalmia OMIM:619185
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:619802
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... ORPHA:35078
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Castleman Disease
Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Microphthalmia OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Temtamy Syndrome
Microphthalmia OMIM:218340
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Orotic Aciduria
Impaired T cell function OMIM:258900
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Moebius Syndrome
Microphthalmia OMIM:157900
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology ORPHA:85450
Tafro Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:457077
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:829
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:549
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Bone marrow hypocellularity, Impaired T cell function ORPHA:1830
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Microphthalmia OMIM:243605
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Hyper-Igd Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:603553
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Chediak-Higashi Syndrome
Macular hypoplasia, Splenomegaly, Lymphadenopathy OMIM:214500
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Joubert Syndrome 14
Microphthalmia OMIM:614424
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Mosaic Trisomy 9
Asplenia, Microphthalmia ORPHA:99776
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Microphthalmia OMIM:603467
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Lymphatic Filariasis
Lymphadenitis, Lymphadenopathy, Lymphangiectasis, Abnormality of the lymphatic system ORPHA:2035
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Immunodeficiency 58
Decreased T cell activation, Decreased circulating antibody level, Decreased specific antibody re... OMIM:618131
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Micro Syndrome
Microphthalmia ORPHA:2510
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos OMIM:601186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat... ORPHA:50918
Fraser Syndrome 2
Hypoplasia of the thymus, Microphthalmia OMIM:617666
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Oligoclonal T cell expansion ORPHA:83471
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Poems Syndrome
Splenomegaly, Lymphadenopathy ORPHA:2905
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Asplenia ORPHA:564
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Microphthalmia OMIM:227645
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Neuroblastoma
Lymphadenopathy ORPHA:635
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:602782
Frontorhiny
Microphthalmia ORPHA:391474
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Holoprosencephaly
Abnormality of the spleen, Anophthalmia, Microphthalmia ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Cohen Syndrome
Microphthalmia ORPHA:193
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
Joubert Syndrome 2
Microphthalmia OMIM:608091
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Microphthalmia OMIM:607323
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Q Fever
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:781
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Cutaneous anergy, Decreased circula... OMIM:242840
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Cherubism
Submandibular lymph node enlargement OMIM:118400
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Microphthalmia OMIM:614083
Fryns Syndrome
Microphthalmia ORPHA:2059
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Papillorenal Syndrome
Microphthalmia OMIM:120330
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Meckel Syndrome 14
Microphthalmia OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Hennekam Syndrome
Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia ORPHA:2136
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Selective Igm Deficiency