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Gene: Itga6 MGI:96605

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

integrin alpha 6

Synonyms:

5033401O05Rik, Cd49f

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Itga6 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.

Human diseases associated with Itga6 (2 diseases)
Human diseases predicted to be associated with Itga6 (470 diseases)

The table below shows human diseases associated to Itga6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia		Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp, Neonatal death	OMIM:619817
Junctional Epidermolysis Bullosa With Pyloric Atresia		Aplasia cutis congenita	ORPHA:79403

The table below shows human diseases predicted to be associated to Itga6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Reticular Dysgenesis	Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct...	OMIM:267500
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased ci...	OMIM:615897
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve...	OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Decreased circulating IgG level	OMIM:235550
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level	OMIM:233650
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen...	OMIM:619846
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level...	OMIM:615513
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Familial Benign Chronic Pemphigus	Skin vesicle, Skin erosion, Erythema	ORPHA:2841
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy, Mucinous histiocytosis	ORPHA:158025
Erythema Elevatum Diutinum	Skin vesicle, Skin nodule	ORPHA:90000
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl...	OMIM:618987
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Darier Disease	Skin vesicle, Plantar pits, Acrokeratosis, Macule, Hypermelanotic macule	ORPHA:218
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy	ORPHA:60026
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia	ORPHA:482
Pruritic Urticarial Papules And Plaques Of Pregnancy	Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Erythe...	ORPHA:64745
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp...	OMIM:618261
Reticuloendotheliosis, X-Linked	Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 2	Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas...	OMIM:608106
Dowling-Degos Disease	Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep...	ORPHA:79145
Immunodeficiency 64 With Lymphoproliferation	Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea...	OMIM:618534
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Immunodeficiency 11	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo...	OMIM:615206
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell...	OMIM:300853
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Keloids, Atrophic scars, Skin ...	ORPHA:79410
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H...	OMIM:619126
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv...	OMIM:617514
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ...	OMIM:618982
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Immunodeficiency 76	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly	OMIM:619164
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Death in infancy, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ...	OMIM:300067
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:615411
Pemphigus Foliaceus	Skin vesicle, Annular cutaneous lesion, Scaling skin, Skin erosion, Erythema, Erythematous plaque...	ORPHA:79481
Dermatitis Herpetiformis	Skin vesicle, Macule, Erythema	ORPHA:1656
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil...	OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absen...	ORPHA:277
Wells Syndrome	Skin vesicle	ORPHA:901
Pyoderma Gangrenosum	Skin vesicle, Atrophic scars, Skin ulcer, Papule	ORPHA:48104
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, Papule	ORPHA:257
Lissencephaly 1	Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria	OMIM:607432
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ...	OMIM:601859
Lichen Planus Pemphigoides	Skin vesicle	ORPHA:254478
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia...	OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati...	ORPHA:169154
Immunodeficiency 50	Neutropenia, Lymphopenia, Decreased circulating antibody level	OMIM:300988
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen...	OMIM:600802
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphade...	ORPHA:444463
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti...	OMIM:312863
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicr...	ORPHA:101029
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph...	OMIM:618986
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant...	OMIM:607594
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Lissencephaly 3	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ...	OMIM:611603
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Dysgyria, Occipital...	ORPHA:352682
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia	OMIM:247800
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hydrocephalus, Partial agenesis of the corpus callosum, Dysplastic corpu...	OMIM:604213
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Erythema migrans	ORPHA:158681
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Reduced antigen-specific ...	OMIM:617241
Iga Pemphigus	Skin plaque, Annular cutaneous lesion, Skin vesicle, Skin erosion	ORPHA:555905
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Splenomegaly	ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple...	OMIM:613101
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune hemolytic anemia, Absence of lymph node germin...	OMIM:608184
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop...	OMIM:610163
Immunodeficiency 81	Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Immunodeficiency, Common Variable, 2	Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve...	OMIM:240500
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,...	OMIM:619802
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ...	OMIM:603909
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Agyria, Pachygyria	ORPHA:1084
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Pancytopenia, Lymphopenia,...	ORPHA:859
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 19	Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology	OMIM:615617
Immunodeficiency 32A	Granuloma, Lymphadenopathy, Lymphadenitis	OMIM:614893
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr...	OMIM:615559
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle	OMIM:613102
Immunodeficiency 68	Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess	OMIM:612260
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni...	OMIM:619510
Lymphoproliferative Syndrome, X-Linked, 1	Reduced natural killer cell activity, Decreased circulating antibody level, Lymphocytosis, Pancyt...	OMIM:308240
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Dysgammaglobulinemia	ORPHA:158014
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Immunodeficiency 27A	Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leuk...	OMIM:209950
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Decrea...	OMIM:618108
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Immunodeficiency 102	Leukopenia, Anemia, Reduced natural killer cell count, Decreased circulating total IgM, B lymphoc...	OMIM:301082
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ...	OMIM:615518
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia	ORPHA:157991
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto...	OMIM:150550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Death in infancy, Agyria, Hydroc...	OMIM:614643
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Porphyria Variegata	Milia, Localized skin lesion, Skin vesicle, Skin erosion	ORPHA:79473
Autosomal Dominant Hyper-Ige Syndrome	Skin vesicle, Skin ulcer, Papule	ORPHA:2314
Band Heterotopia	Gray matter heterotopia, Lateral ventricle dilatation, Hydrocephalus, Subcortical band heterotopi...	OMIM:600348
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym...	ORPHA:331206
Hennekam-Beemer Syndrome	Skin vesicle, Papule, Macule, Subcutaneous nodule, Erythema	ORPHA:2135
Lissencephaly 5	Gray matter heterotopia, Optic atrophy, Hydrocephalus, Type II lissencephaly, Subcortical band he...	OMIM:615191
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Increased circulating IgG ...	OMIM:618495
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen...	OMIM:613011
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Macular atroph...	OMIM:616171
Alpha-Heavy Chain Disease	Anemia, Lymphadenopathy, Splenomegaly, Dysgammaglobulinemia	ORPHA:100025
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha...	OMIM:604317
Immunodeficiency 70	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally...	OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th...	OMIM:616100
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Immunodeficiency With Hyper-Igm, Type 1	Abnormal circulating IgM level, Hemolytic anemia, Decreased T cell activation, Enlarged tonsils, ...	OMIM:308230
Sweet Syndrome	Skin vesicle, Pyoderma gangrenosum, Skin nodule, Erythematous plaque, Erythematous papule	ORPHA:3243
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia...	OMIM:619313
Leber Congenital Amaurosis	Abnormal optic disc morphology, Encephalocele, Abnormality of neuronal migration, Abnormality of ...	ORPHA:65
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Decreased proportion of CD4-positive h...	ORPHA:543
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:603552
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	T lymphocytopenia, B lymphocytopenia, Decreased circulating total IgM, Lack of T cell function, D...	ORPHA:35078
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Decreased...	ORPHA:276
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor...	OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec...	OMIM:618048
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenitis, Decreased lymphocyte proliferation in response to ...	ORPHA:911
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy...	OMIM:301078
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ...	OMIM:615122
Schnitzler Syndrome	Anemia, Lymphadenopathy, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla...	OMIM:616005
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto...	ORPHA:507
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration	ORPHA:945
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Tularemia	Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar...	ORPHA:3392
Immunodeficiency By Defective Expression Of Mhc Class Ii	Panhypogammaglobulinemia, T lymphocytopenia, Lack of T cell function, Decreased circulating antib...	ORPHA:572
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Dyskeratosis Congenita	Skin vesicle, Skin ulcer, Hypopigmented skin patches, Macule, Aplasia/Hypoplasia of the skin, Hyp...	ORPHA:1775
Follicular Lymphoma	Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:545
Polymicrogyria Due To Tubb2B Mutation	Gray matter heterotopia, Perisylvian polymicrogyria, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Abnormal mast cell morph...	ORPHA:98848
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Subependymal Nodular Heterotopia	Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Partia...	ORPHA:101030
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo...	OMIM:612840
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:86893
Walker-Warburg Syndrome	Abnormality of neuronal migration, Optic atrophy, Abnormal cortical gyration, Retinal dystrophy, ...	ORPHA:899
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Gray matter heterotopia, Optic atrophy, Macular hypoplasia, Simplified gyral pattern, Communicati...	OMIM:615219
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ly...	OMIM:618935
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Optic atrophy, Polymicrogyria	ORPHA:99802
Boutonneuse Fever	Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Thrombocy...	ORPHA:83313
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr...	OMIM:619774
Poretti-Boltshauser Syndrome	Retinal atrophy, Retinal dystrophy, Gray matter heterotopia, Retinal thinning	OMIM:615960
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati...	OMIM:617099
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro...	OMIM:613179
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Brain abscess, Liver abscess, Neutrophilia, Abnormality o...	ORPHA:54251
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Partial...	OMIM:616212
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Deafness-Lymphedema-Leukemia Syndrome	Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli...	ORPHA:3226
Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:98293
Lissencephaly Syndrome, Norman-Roberts Type	Abnormal retinal morphology, Abnormality of neuronal migration, 4-layered lissencephaly, Microlis...	ORPHA:89844
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp, Neonatal death	OMIM:619817
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Leukocyte Adhesion Deficiency Type Ii	Skin vesicle	ORPHA:99843
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Leukocytosis	OMIM:611762
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Death in infancy, Abnormality of retinal pigmenta...	ORPHA:2481
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Splenomegaly	OMIM:615387
Chikungunya	Petechiae, Skin vesicle, Macule, Erythema	ORPHA:324625
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:2584
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib...	OMIM:614700
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Agenesis of corpus callosum, Pachygyria	ORPHA:2512
Sézary Syndrome	Abnormal immunoglobulin level, Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:3162
Cyclic Neutropenia	Perianal abscess, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic neutropenia, C...	ORPHA:2686
Griscelli Syndrome	Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Lymphadenopathy, Bo...	ORPHA:381
Roifman Syndrome	Decreased T cell activation, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadeno...	ORPHA:353298
Immunodeficiency 54	Reduced natural killer cell count, Lymphadenopathy, Splenomegaly	OMIM:609981
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Pancytop...	ORPHA:79124
Aggressive Systemic Mastocytosis	Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of...	ORPHA:98850
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Reticulocytosis, Bone marrow hypocellularity, Eosinophilia, Dec...	ORPHA:3261
Griscelli Syndrome Type 2	Pancytopenia, Lymphadenopathy, Hemophagocytosis, Neutropenia, Splenomegaly	ORPHA:79477
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Cinca Syndrome	Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia	OMIM:607115
Fish-Eye Disease	Lymphadenopathy, Splenomegaly	ORPHA:79292
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia, Increased ...	OMIM:242860
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Eosinophi...	OMIM:304790
Immunodeficiency 49	T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ...	OMIM:617237
Pfapa Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:42642
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Chorioretinal coloboma, Remnants of the hyaloid vascular system	ORPHA:231736
Congenital Toxoplasmosis	Thrombocytopenia, Lymphadenopathy, Anemia	ORPHA:858
Congenital Muscular Dystrophy With Cerebellar Involvement	Gray matter heterotopia, Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Type II lissenceph...	ORPHA:370959
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopen...	ORPHA:100026
Primary Myelofibrosis	Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc...	ORPHA:824
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Thymic Aplasia	T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Coombs-positive hem...	ORPHA:83471
Vici Syndrome	Gray matter heterotopia, Abnormal macular morphology, Death in infancy, Optic atrophy, Abnormalit...	ORPHA:1493
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ...	OMIM:165550
Heme Oxygenase 1 Deficiency	Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Ce...	OMIM:614034
Immunodeficiency 40	Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho...	OMIM:616433
Immunodeficiency 17	Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo...	OMIM:615607
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia, Hepatosplenomegaly	OMIM:619750
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Classic Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity	ORPHA:391
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA lev...	OMIM:615758
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Thrombocytopenia, Spl...	OMIM:617591
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Chronic Graft Versus Host Disease	Skin vesicle, Skin ulcer, Intermittent generalized erythematous papular rash, Erythema	ORPHA:99921
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Dysplastic Cortical Hyperostosis	Abnormality of neuronal migration	ORPHA:2204
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C...	ORPHA:98849
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Thrombocytosis, Increased circulating Ig...	OMIM:615934
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti...	OMIM:208900
Selective Igm Deficiency	Lymphadenitis, Decreased circulating IgG level, Decreased circulating total IgM, Neutropenia in p...	ORPHA:331235
Immunodeficiency 55	Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Optic disc pallor, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Rhabdoid Tumor	Thrombocytopenia, Lymphadenopathy, Anemia	ORPHA:69077
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, ...	ORPHA:158061
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Monocytosis, Thrombocytopenia	OMIM:619644
Omenn Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Splenomegaly, Abnormal lymphocyte morphology	ORPHA:39041
Chiari Malformation Type Ii	Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agen...	OMIM:207950
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia	OMIM:615966
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Reduced natural killer cell activity, Decreased circulating antibody level, Lymphadenopat...	ORPHA:540
Hyper-Igd Syndrome	Lymphadenitis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy...	OMIM:260920
Felty Syndrome	Anemia, Lymphadenopathy, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly...	ORPHA:47612
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Coloboma, Ocular, Autosomal Dominant	Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Chorioretina...	OMIM:120200
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Thanatophoric Dysplasia Type 2	Holoprosencephaly, Hydrocephalus, Encephalocele, Abnormality of neuronal migration	ORPHA:93274
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Orbital encephalocele	OMIM:164180
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Anemia, Reduced natural killer cell activity, Pancytopenia, Hepatosplenomegaly, Lymph...	OMIM:603553
Wiskott-Aldrich Syndrome	Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s...	OMIM:301000
Joubert Syndrome 30	Gray matter heterotopia, Retinal dystrophy	OMIM:617622
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia	OMIM:257200
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Impaired T cell functio...	OMIM:258900
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Vici Syndrome	Leukopenia, T lymphocytopenia, Decreased T cell activation, Decreased circulating IgG2 level, Lym...	OMIM:242840
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative...	OMIM:233710
Common Variable Immunodeficiency	Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Autoimmune thrombocytopenia,...	ORPHA:1572
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Chediak-Higashi Syndrome	Leukopenia, Anemia, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Impaired neutro...	OMIM:214500
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia	OMIM:616651
Cinca Syndrome	Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Leukocytosi...	ORPHA:1451
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder	ORPHA:79456
Schimke Immuno-Osseous Dysplasia	Anemia, Lymphopenia, Abnormal lymphocyte physiology, Impaired T cell function, Bone marrow hypoce...	ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Thrombocytopenia, Decreased specific anti-polysaccharide ...	OMIM:614576
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaired oxidative...	OMIM:233690
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:520
Joubert Syndrome With Oculorenal Defect	Encephalocele, Abnormality of neuronal migration, Retinal dystrophy, Hydrocephalus, Chorioretinal...	ORPHA:2318
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Splenomegaly	ORPHA:85414
Desmoplastic Small Round Cell Tumor	Anemia, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:83469
Adult-Onset Still Disease	Neutrophilia, Generalized lymphadenopathy, Bone marrow hypocellularity, Leukocytosis, Splenomegaly	ORPHA:829
Mevalonic Aciduria	Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymph...	OMIM:610377
3C Syndrome	Abnormality of neuronal migration, Optic atrophy, Death in infancy, Hydrocephalus, Chorioretinal ...	ORPHA:7
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog...	ORPHA:2211
Bare Lymphocyte Syndrome, Type Ii	Cutaneous anergy, Agammaglobulinemia, Neutropenia, Panhypogammaglobulinemia	OMIM:209920
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Desmosterolosis	Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc...	ORPHA:35107
Castleman Disease	Anemia, Generalized lymphadenopathy, Decreased mean corpuscular volume, Lymphadenopathy, Follicul...	ORPHA:160
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Splenomegaly	ORPHA:30
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circul...	OMIM:619381
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly	OMIM:619183
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, T lymphocytopenia, Decreased circulating total IgM, Decreased lymphocyte proli...	ORPHA:508533
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:179494
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Retinal coloboma	OMIM:619775
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Legionnaires Disease	Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Lymphopenia	ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 1	Leukopenia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly	OMIM:267700
Lig4 Syndrome	Leukocytosis, Lymphadenopathy, Acute leukemia, Pancytopenia	ORPHA:99812
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus	ORPHA:2655
Persistent Hyperplastic Primary Vitreous	Retinal fold, Tractional retinal detachment, Macular hypoplasia, Hyaloid vascular remnant and ret...	ORPHA:91495
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Optic nerve hypoplas...	OMIM:603671
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat...	OMIM:618213
Multiple Myeloma	Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I...	ORPHA:29073
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly	ORPHA:169090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Hepatospleno...	OMIM:615688
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Neonatal death, Hydrocephalus	OMIM:187600
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy, Increased circulating IgA level	ORPHA:343
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Neutropenia	OMIM:607944
Joubert Syndrome	Hydrocephalus, Encephalocele, Abnormality of neuronal migration, Polymicrogyria	ORPHA:475
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Leukopenia, Anemia, Lymphocytosis, Generalized lymphadenopathy, L...	ORPHA:50918
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Hydrocephalus, Webbed neck, Lissencephaly	OMIM:617822
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Impaire...	OMIM:306400
Pediatric Systemic Lupus Erythematosus	Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:93552
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:809
Nephroblastoma	Lymphadenopathy	ORPHA:654
Immunodeficiency 31C	Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:614162
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Chédiak-Higashi Syndrome	Anemia, Neutropenia, Abnormal platelet function, Pancytopenia, Hepatosplenomegaly, Lymphadenopath...	ORPHA:167
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE...	ORPHA:449432
American Trypanosomiasis	Lymphadenopathy, Splenomegaly	ORPHA:3386
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Coffin-Lowry Syndrome	Death in early adulthood, Abnormality of neuronal migration, Optic atrophy, Abnormality of retina...	ORPHA:192
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Waldenström Macroglobulinemia	Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Monoclonal immunoglobul...	ORPHA:33226
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Anemia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Neu-Laxova Syndrome	Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macrogyria, Lissence...	ORPHA:2671
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Lymphoid leukemia	ORPHA:79140
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Decreased mean platel...	OMIM:617718
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Neonatal death, Polymicrogyria	OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Gray matter heterotopia, Anencephaly, Hydrocephalus, Communicating hydroce...	OMIM:615287
Carnitine Palmitoyltransferase Ii Deficiency	Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi...	ORPHA:157
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Splenomegaly	OMIM:201100
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria	ORPHA:2065
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:615895
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration, Hydrocephalus, Chorioretinal coloboma, Occipital encephalocele...	ORPHA:1454
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Lymphadenopathy, Eosinophilia	ORPHA:139402
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Increased circ...	ORPHA:37042
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Death in infancy	OMIM:608836
Aicardi Syndrome	Gray matter heterotopia, Optic atrophy, Lateral ventricle dilatation, Spina bifida, Partial agene...	OMIM:304050
Pierson Syndrome	Retinal hemorrhage, Macular hypoplasia, Retinal vascular tortuosity, Hypopigmentation of the fund...	OMIM:609049
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy	ORPHA:97289
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Retinopathy	OMIM:617563
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Poems Syndrome	Increased circulating antibody level, Thrombocytosis, Lymphadenopathy, Polycythemia	ORPHA:2905
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Splenomegaly	ORPHA:36412
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph...	ORPHA:391487
Q Fever	Anemia, Granuloma, Increased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy, Thr...	ORPHA:781
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Pagod Syndrome	Meningocele, Encephalocele, Abnormality of neuronal migration, Optic atrophy, Death in infancy, S...	ORPHA:991
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Agenesis of corpus callosum, Polymi...	ORPHA:228308
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Abnormality of T cell physiology, Generalized lymphadenopat...	OMIM:181000
Holoprosencephaly 14	Gray matter heterotopia, Aqueductal stenosis, Periventricular heterotopia, Hydrocephalus, Alobar ...	OMIM:619895
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic...	OMIM:601390
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Nijmegen Breakage Syndrome	T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thromboc...	OMIM:251260
Acute Interstitial Pneumonia	Lymphadenopathy, Reduced hematocrit	ORPHA:79126
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Optic disc pallor, Death in childhood, Pigmentary retinopathy, Polymicro...	OMIM:214100
Hennekam Syndrome	Decreased circulating antibody level, Pulmonary lymphangiectasia, Lymphopenia, Lymphadenopathy, S...	ORPHA:2136
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
16P13.11 Microdeletion Syndrome	Holoprosencephaly, Abnormality of neuronal migration, Agenesis of corpus callosum	ORPHA:261236
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Hydrocephalus, Epiretinal membrane, Remnants of the hyaloid vascular system, M...	ORPHA:637
Malt Lymphoma	Anemia, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:52417
Brucellosis	Leukopenia, Anemia, Liver abscess, Hypersplenism, Granuloma, Lung abscess, Lymphadenopathy, Throm...	ORPHA:1304
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Retinal fold, Remnants of the hyaloid vascular system	OMIM:221900
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Graft Versus Host Disease	Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly	ORPHA:39812
Holoprosencephaly	Spinal dysraphism, Retinopathy, Encephalocele, Optic atrophy, Abnormality of neuronal migration, ...	ORPHA:2162
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology	OMIM:618223
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Carney Triad	Anemia, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:139411
Lymphatic Filariasis	Hypereosinophilia, Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic...	ORPHA:2035
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Neonatal death, Frontal polymicrogyria, Pachygyria	OMIM:620024
Immunodeficiency 58	Decreased T cell activation, Decreased circulating antibody level, Cutaneous abscess, Recurrent c...	OMIM:618131
Bohring-Opitz Syndrome	Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Farber Disease	Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:333
Tangier Disease	Anemia, Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thr...	ORPHA:31150
Coccidioidomycosis	Granuloma, Lymphadenopathy, Eosinophilia, Increased circulating IgM level, Mediastinal lymphadeno...	ORPHA:228123
Primary Sjögren Syndrome	Leukopenia, Decreased circulating antibody level, Increased circulating antibody level, Normocyti...	ORPHA:289390
H Syndrome	Lymphadenopathy, Histiocytosis, Microcytic anemia, Hepatosplenomegaly	ORPHA:168569
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Lymphadenopathy, Cervical lymphadenopathy, Histiocytosis, Splenomegaly	OMIM:602782
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Familial Pancreatic Carcinoma	Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Immunodeficiency 87 And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, Abnormal lymphocyte proliferation, Lymphopenia, Decrea...	OMIM:619573
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Periventricular heterotopia, Abnormality of neuronal migration, Colpocep...	ORPHA:75857
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Lymphadenopathy, Increased circulating IgA level, Increased cir...	ORPHA:79078
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum	ORPHA:314679
Pulmonary Capillary Hemangiomatosis	Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:199241
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Anemia, Polysplenia, Lymphadenopathy, Accessory spleen, Splenomegaly	OMIM:619418
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Abnormality of neuronal migration	ORPHA:464311
Van Maldergem Syndrome 2	Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia	OMIM:615546
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Arima Syndrome	Gray matter heterotopia, Optic atrophy, Retinal dystrophy, Chorioretinal coloboma, Occipital meni...	OMIM:243910
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia	ORPHA:26791
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Gray matter heterotopia, Lateral ventricle dilatation, Death in infancy, Abnormal cortical gyrati...	OMIM:210710
Marburg Hemorrhagic Fever	Leukopenia, Increased circulating antibody level, Reticulocytosis, Lymphopenia, Lymphadenopathy, ...	ORPHA:99826
Holoprosencephaly 2	Semilobar holoprosencephaly, Alobar holoprosencephaly, Remnants of the hyaloid vascular system, H...	OMIM:157170
Crimean-Congo Hemorrhagic Fever	Leukopenia, Neutrophilia, Pancytopenia, Lymphadenopathy, Leukocytosis, Increased circulating IgM ...	ORPHA:99827
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly, Leukocytosis	ORPHA:32960
Opitz-Kaveggia Syndrome	Partial agenesis of the corpus callosum, Gray matter heterotopia, Hydrocephalus	OMIM:305450
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Dysplastic corpus callosum, Agenesis of...	OMIM:618820
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, Thrombocy...	OMIM:256040
Orofaciodigital Syndrome I	Gray matter heterotopia, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus, Agenesis of...	OMIM:311200
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration	ORPHA:2754
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration, Anencephaly, Arrhinencephaly, Stillbirth, Se...	OMIM:236680
Sarcoidosis	Abnormal lymph node morphology, Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Lym...	ORPHA:797
Igg4-Related Ophthalmic Disease	Lymphadenopathy, Increased circulating IgG4 level, Increased circulating IgE level, Eosinophilia	ORPHA:449563
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgG4 level, Increased circulating IgG level, Lymphadenopathy...	ORPHA:449395
Koolen-De Vries Syndrome	Gray matter heterotopia	OMIM:610443
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum, Optic nerv...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Abnormal optic nerve morphology, Gray matter heterotopia, Agenesis of corpus callosum, Optic nerv...	ORPHA:352665
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy	ORPHA:100078
Jejunal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy	ORPHA:100077
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Impaired T cell function, Abnormality of the tonsils, Thrombocytopenia,...	ORPHA:567
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Bilateral Perisylvian Polymicrogyria	Bilateral perisylvian polymicrogyria, Abnormality of neuronal migration, Perisylvian predominant ...	ORPHA:98889
Duodenal Neuroendocrine Tumor	Increased hematocrit, Iron deficiency anemia, Lymphadenopathy	ORPHA:100076
Lymphangioleiomyomatosis	Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system	ORPHA:538
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Familial Mediterranean Fever	Lymphadenopathy, Splenomegaly	ORPHA:342
Fontaine Progeroid Syndrome	Gray matter heterotopia, Periventricular heterotopia, Death in infancy, Hydrocephalus, Neonatal d...	OMIM:612289
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Retina...	ORPHA:649
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Splenomegaly	ORPHA:667
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system	OMIM:300166
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Digeorge Syndrome	Anemia, Hypoplasia of the thymus, Abnormality of the thymus, Impaired T cell function, Thrombocyt...	OMIM:188400
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Neoplasm of the thymus, Decreased eosinophil count, Lymphopenia, ...	ORPHA:99889
Behçet Disease	Lymphadenopathy, Splenomegaly	ORPHA:117
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Proteus Syndrome	Gray matter heterotopia, Retinal hamartoma, Abnormality of retinal pigmentation, Retinal nonattac...	ORPHA:744
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system	OMIM:619539
Blau Syndrome	Anemia, Lymphadenopathy, Splenomegaly	ORPHA:90340
Leptospirosis	Thrombocytopenia, Lymphadenopathy	ORPHA:509
African Trypanosomiasis	Lymphadenopathy, Splenomegaly, Hepatosplenomegaly	ORPHA:3385
Junctional Epidermolysis Bullosa With Pyloric Atresia	Aplasia cutis congenita	ORPHA:79403

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Itga6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itga6.

No publications found that use IMPC mice or data for Itga6.

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