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Gene: Nfatc2 MGI:102463

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2

Synonyms:

NFAT1-D, NFAT1, NFATp

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 Nfatc2 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 Nfatc2 (1 diseases)
Human diseases predicted to be associated with Nfatc2 (786 diseases)

The table below shows human diseases associated to Nfatc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Joint Contractures, Osteochondromas, And B-Cell Lymphoma		Generalized lymphadenopathy	OMIM:620232

The table below shows human diseases predicted to be associated to Nfatc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp...	OMIM:618982
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Kimura Disease	Increased circulating IgE level	ORPHA:482
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe...	OMIM:618261
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function	ORPHA:277
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ...	OMIM:613101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level	ORPHA:217390
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of naive T cells, Abnormal im...	ORPHA:276
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Igg4-Related Aortitis	Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc...	ORPHA:449400
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM	OMIM:243700
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 102	Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H...	OMIM:301082
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination,...	OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen...	OMIM:618986
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D...	OMIM:615122
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:618394
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG...	OMIM:618969
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa...	ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level	OMIM:617006
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy...	ORPHA:3392
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma...	OMIM:226990
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating...	ORPHA:417
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Immunodeficiency 46	Decreased circulating antibody level	OMIM:616740
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level	OMIM:304790
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level	OMIM:615816
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Asplenia, Cerv...	OMIM:614034
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa...	ORPHA:540
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Aspergillosis	Increased circulating IgE level	ORPHA:1163
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Lymph node hypoplasia, T lym...	OMIM:300755
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level	ORPHA:2314
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Decrease...	ORPHA:353298
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Pgm3-Cdg	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:443811
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th...	ORPHA:83471
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Lead Poisoning	Abnormality of humoral immunity, Increased circulating IgE level	ORPHA:330015
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Anhidrosis	OMIM:614979
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hypogonadism, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Increased circulating antibody lev...	OMIM:617591
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H...	ORPHA:158057
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali...	ORPHA:178320
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Reticular Dysgenesis	Decreased circulating antibody level	ORPHA:33355
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphad...	OMIM:260920
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Wiskott-Aldrich Syndrome	Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ...	OMIM:301000
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota...	ORPHA:508533
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hyperhidrosis, Leukopenia, Thrombocytopenia	ORPHA:108
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati...	ORPHA:1572
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Ataxia-Telangiectasia	Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig...	OMIM:208900
Trichinellosis	Increased circulating IgE level	ORPHA:863
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testosterone ...	OMIM:201100
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Elev...	OMIM:615234
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis	ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys...	OMIM:614576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,...	OMIM:603553
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal...	ORPHA:3243
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, F...	ORPHA:160
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Lymphopenia	OMIM:605309
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Hemochromatosis, Type 2A	Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatomegaly	OMIM:602390
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati...	OMIM:300972
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ...	OMIM:278000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Acute leukemia, Lymphadenopathy	ORPHA:99812
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level	ORPHA:37042
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Pneumocystosis	Increased circulating antibody level	ORPHA:723
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ...	ORPHA:169105
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449395
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ...	ORPHA:158048
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi...	OMIM:615895
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level	ORPHA:449563
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Impaired T cell function, Abnormal lymphocyte physiology, Thro...	ORPHA:1830
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep...	OMIM:615688
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level	OMIM:616395
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel...	OMIM:608233
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Hyperhidrosis...	ORPHA:1332
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Panhypogamm...	ORPHA:84064
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l...	ORPHA:297
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I d...	OMIM:613385
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Igg4-Related Thyroid Disease	Increased circulating IgG4 level	ORPHA:64744
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Ch...	ORPHA:398124
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cirrh...	OMIM:235200
Igg4-Related Pachymeningitis	Complement deficiency, Increased circulating IgG4 level	ORPHA:449427
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Hereditary Folate Malabsorption	Decreased circulating antibody level	ORPHA:90045
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Q Fever	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn...	ORPHA:781
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplas...	OMIM:612541
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85450
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas...	ORPHA:2298
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto...	ORPHA:93552
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level	ORPHA:373
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom...	OMIM:606003
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy	ORPHA:36412
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Poems Syndrome	Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis...	ORPHA:2905
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias...	OMIM:181000
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Vici Syndrome	Decreased circulating IgG level, Left ventricular hypertrophy, Decreased circulating IgG2 level, ...	OMIM:242840
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Prostatitis, Absent...	OMIM:307200
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy...	ORPHA:567983
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis	ORPHA:39812
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Neutrope...	ORPHA:1667
Scleromyxedema	Paraproteinemia	ORPHA:167635
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level	ORPHA:79078
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Hennekam Syndrome	Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating ant...	ORPHA:2136
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lym...	OMIM:602782
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus	OMIM:214110
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp...	OMIM:301074
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocyto...	ORPHA:1304
Immunodeficiency 58	Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu...	OMIM:618131
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal...	ORPHA:542323
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin...	ORPHA:97289
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Thrombocytosis	ORPHA:71493
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port...	ORPHA:171
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Bone marrow hypocellularity	OMIM:617303
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow...	ORPHA:293978
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Hepatomegaly	OMIM:612852
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed p...	ORPHA:77261
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Ne...	ORPHA:391487
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Dela...	OMIM:611881
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Rectal abscess, Type I diabetes...	ORPHA:436252
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci...	OMIM:610199
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
H Syndrome	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Enlarged kidney, Histiocytosis	ORPHA:168569
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Mgat2-Cdg	Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio...	ORPHA:79329
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone...	OMIM:239200
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:210900
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level	OMIM:619472
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp...	ORPHA:3260
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Familial Tumoral Calcinosis	Hyperhidrosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal...	ORPHA:183675
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropenia, Delayed p...	OMIM:232220
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Monosomy 22	Hyperhidrosis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ...	ORPHA:3132
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc...	OMIM:615846
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Digeorge Syndrome	Hepatic steatosis, Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyr...	OMIM:188400
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Secondary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve...	ORPHA:90363
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines, Hepatomegaly	OMIM:612132
Postinfectious Vasculitis	Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase...	ORPHA:48435
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Familial Mediterranean Fever	Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis	ORPHA:342
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:125
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Pancreatitis	ORPHA:565612
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L...	ORPHA:99826
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Ascites, Right ventricular hypert...	OMIM:613177
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Parathyroid hypoplasia	ORPHA:2237
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:100078
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Abnormality of the tonsils, Impaired T cell function, Crypto...	ORPHA:567
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ...	ORPHA:797
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:667
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Impaired T cell function	OMIM:192430
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level	OMIM:271510
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Kawasaki Disease	Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis	ORPHA:2331
Eec Syndrome	Decreased response to growth hormone stimulation test, Xerostomia, Hypohidrosis, Hypoplasia of th...	ORPHA:1896
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Liver Disease, Severe Congenital	Hepatomegaly, Cardiomegaly, Biliary hyperplasia, Splenomegaly, Jaundice, Intrahepatic cholestasis...	OMIM:619991
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level	OMIM:618278
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Lymphangioleiomyomatosis	Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Lysinuric Protein Intolerance	Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec...	ORPHA:470
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Decreased circulatin...	ORPHA:83617
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia	ORPHA:861
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit...	ORPHA:544482
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Blau Syndrome	Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy	ORPHA:90340
Behçet Disease	Splenomegaly, Pancreatitis, Lymphadenopathy	ORPHA:117
Gaucher Disease	Increased circulating antibody level	ORPHA:355
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100079
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly	ORPHA:3384
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ...	ORPHA:2968
Plague	Splenomegaly, Lymphadenitis, Hepatomegaly, Enlarged mesenteric lymph node	ORPHA:707
African Trypanosomiasis	Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy	ORPHA:3385
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level	OMIM:264090
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150

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 Nfatc2

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 Nfatc2.

No publications found that use IMPC mice or data for Nfatc2.

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MGI Allele	Allele Type	Produced
Nfatc2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Nfatc2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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