Gene: Ltbr MGI:104875

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

lymphotoxin B receptor

Synonyms:

Tnfrsf3, TNFR2-RP, LT beta-R, Ltar, TNF receptor-related protein, LT-beta receptor, TNF-R-III, TNFRrp, LTbetaR, Tnfbr, TNFCR

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 Ltbr 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 Ltbr (0 diseases)
Human diseases predicted to be associated with Ltbr (807 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Immunodeficiency 40	Lymphopenia	OMIM:616433
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 8	Lymphopenia	OMIM:615401
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased...	OMIM:614493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia	OMIM:615607
Immunodeficiency 72 With Autoinflammation	Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul...	OMIM:618982
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 19	Lymphopenia	OMIM:615617
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula...	OMIM:615897
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi...	OMIM:615559
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 14A, Autosomal Dominant	Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel...	OMIM:615513
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess	OMIM:618108
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu...	OMIM:202700
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, A...	OMIM:614470
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, B lymphocytopenia, Lack of T cell function, Abnormality of humoral immunity, Incr...	ORPHA:277
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Lymphopenia	OMIM:247630
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs...	OMIM:619374
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ...	OMIM:606843
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Neutropenia, Lymphopenia	OMIM:614868
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Caspase 8 Deficiency	Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Reduced CD95-i...	OMIM:607271
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 85 And Autoimmunity	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen...	OMIM:619510
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa...	OMIM:618534
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be...	OMIM:603909
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Cernunnos-Xlf Deficiency	B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia	ORPHA:169079
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency 84	B lymphocytopenia, Perianal abscess, Splenomegaly	OMIM:619437
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia	OMIM:615285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly	OMIM:608971
Candidiasis, Familial, 2	Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia	OMIM:212050
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De...	OMIM:619281
Immunodeficiency 52	Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D...	OMIM:617514
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice	OMIM:312500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ...	OMIM:619313
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Autoimmune hem...	OMIM:618495
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 76	B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly	OMIM:619164
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula...	OMIM:300400
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 68	B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating...	ORPHA:100024
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Neutropenia, Lymphadenopathy, Decreased circulating IgG level, Fulminant hepatitis,...	OMIM:308240
Immunodeficiency 48	Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen...	OMIM:607594
Immunodeficiency 75	Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli...	OMIM:619126
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Lymphadenopathy, Increased circulating IgA level, Decreased lymphocyte proliferation...	ORPHA:169154
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon...	OMIM:245480
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De...	OMIM:300853
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia	OMIM:247800
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre...	OMIM:618944
Immunodeficiency 13	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD...	OMIM:615518
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane...	ORPHA:444463
Myelolymphatic Insufficiency	Hyposegmentation of neutrophil nuclei, Leukopenia	OMIM:310350
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia	OMIM:267500
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni...	OMIM:614172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr...	OMIM:619041
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti...	OMIM:617241
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy...	ORPHA:231154
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F...	OMIM:601859
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Kerion Celsi	Lymphadenopathy, Recurrent cutaneous abscess formation	ORPHA:499
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia	OMIM:613501
Autoinflammation With Infantile Enterocolitis	Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia	OMIM:616050
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp...	ORPHA:158057
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ...	OMIM:619220
X-Linked Lymphoproliferative Disease	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,...	ORPHA:2442
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia	ORPHA:231393
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Hemoglobin H Disease	Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia	OMIM:613978
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, Increased circ...	OMIM:608106
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig cl...	OMIM:605258
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia	OMIM:615592
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi...	OMIM:613101
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu...	ORPHA:276
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci...	ORPHA:331206
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Increased ...	OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Reduced red cell adenosine deam...	OMIM:102700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia	OMIM:242860
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Lymphadenopathy, Decreased circulating IgA level, Decreas...	OMIM:240500
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
Omenn Syndrome	B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,...	OMIM:603554
Hemoglobin D Disease	Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Alpha-Heavy Chain Disease	Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia	ORPHA:100025
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphadenopathy, Decreased circulating IgA level, Decreased circulating IgG level, ...	OMIM:616100
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat...	ORPHA:2585
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro...	OMIM:133180
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis	ORPHA:66661
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia	OMIM:613500
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia	OMIM:618963
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr...	ORPHA:98826
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem...	OMIM:618986
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia	OMIM:616873
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level	ORPHA:37748
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I...	OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho...	OMIM:600802
Diamond-Blackfan Anemia 4	Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia	OMIM:612527
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir...	OMIM:610163
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased circulating IgA level, Decreased ...	OMIM:606367
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ...	OMIM:613493
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Decreased circulating IgA l...	OMIM:308230
Immunodeficiency 7	Lymphadenopathy, Hypereosinophilia	OMIM:615387
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	ORPHA:3261
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion...	OMIM:603902
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat...	OMIM:237800
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia	OMIM:613502
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617006
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg...	OMIM:619375
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:605309
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto...	OMIM:603552
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly	OMIM:615947
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly	OMIM:607616
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec...	ORPHA:70593
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu...	ORPHA:443811
Lymphoproliferative Syndrome 2	Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt...	OMIM:615122
Rosaï-Dorfman Disease	Lymphadenopathy, Dysgammaglobulinemia, Anemia	ORPHA:158014
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto...	OMIM:159550
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali...	ORPHA:543
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency 70	B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci...	OMIM:618969
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Thrombocythemia 1	Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:187950
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Diamond-Blackfan Anemia 8	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612563
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Decreased circulating IgG level, Hepatitis, Decreased lymphocyte...	ORPHA:169160
Combined Immunodeficiency Due To Zap70 Deficiency	Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ...	ORPHA:911
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ...	OMIM:613673
Hypertriglyceridemia, Transient Infantile	Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly	OMIM:614480
3-Methylglutaconic Aciduria, Type Vii	Neutropenia	OMIM:616271
Lymphoproliferative Syndrome 1	Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating...	OMIM:613011
Immunodeficiency, Common Variable, 14	Decreased specific antibody response to vaccination, Decreased circulating IgA level, Defective B...	OMIM:617765
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hepatitis, Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplast...	OMIM:300635
Immunodeficiency 36	Chronic lymphatic leukemia, Decreased circulating antibody level, Lymphopenia, Splenomegaly	OMIM:616005
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg...	OMIM:612840
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Absent natural kil...	ORPHA:35078
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume	OMIM:615234
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level	ORPHA:217390
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Leishmaniasis	Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:507
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,...	ORPHA:86843
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Alpha-Thalassemia	Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo...	ORPHA:846
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Absence of lymph node germin...	OMIM:608184
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level	OMIM:618048
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly	ORPHA:79238
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis, Decreased serum complement C3	ORPHA:79087
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia	OMIM:610539
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ...	ORPHA:98848
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi...	ORPHA:158061
Galactosemia Iii	Jaundice, Hepatomegaly, Splenomegaly	OMIM:230350
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis...	OMIM:615631
Classic Mycosis Fungoides	Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:2584
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells	OMIM:616098
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly	ORPHA:545
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia	OMIM:598500
Adult Idiopathic Neutropenia	Monocytopenia, Neutropenia, Lymphopenia, Monocytosis	ORPHA:2688
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy	OMIM:617718
Hermansky-Pudlak Syndrome 2	Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu...	OMIM:608233
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Increased circ...	OMIM:304790
Aicardi-Goutieres Syndrome 7	Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly	OMIM:615846
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Sebastian syndrome	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:605249
Immunodeficiency 55	Neutropenia	OMIM:617827
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Acute Monoblastic/Monocytic Leukemia	Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph...	ORPHA:514
Polycythemia Vera	Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ...	OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Ia	Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R...	OMIM:224120
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia	OMIM:616738
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr...	OMIM:300291
Sea-Blue Histiocytosis	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Bone Marrow Failure Syndrome 6	Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia	OMIM:618849
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle...	ORPHA:101096
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis	OMIM:271500
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,...	ORPHA:766
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Hemochromatosis, Type 3	Anemia, Neutropenia, Lymphopenia	OMIM:604250
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom...	ORPHA:3226
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Splenomegaly	ORPHA:172
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal...	ORPHA:79301
Whim Syndrome 1	Neutropenia	OMIM:193670
Hemochromatosis, Type 2B	Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis	OMIM:613313
Griscelli Syndrome	Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Decre...	ORPHA:381
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly	OMIM:615085
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic fibrosis, Splenomegaly	OMIM:616719
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impa...	OMIM:618935
Combined Immunodeficiency With Faciooculoskeletal Anomalies	B lymphocytopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper...	ORPHA:221139
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De...	OMIM:614700
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Congenital Disorder Of Glycosylation, Type Iir	Hepatomegaly, Ascites, Decreased circulating antibody level, Micronodular cirrhosis, Hepatic stea...	OMIM:301045
Tularemia	Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Abnormal nasop...	ORPHA:3392
Hemoglobin E Disease	Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ...	ORPHA:2133
Folate Malabsorption, Hereditary	Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Immunodeficiency 32B	Splenomegaly	OMIM:226990
Griscelli Syndrome Type 2	Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice	ORPHA:79477
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome...	ORPHA:824
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice	OMIM:619658
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia	OMIM:610333
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Splenomegaly	OMIM:121300
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp...	OMIM:616860
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia	OMIM:601495
Dysplastic Cortical Hyperostosis	Hepatomegaly, Splenomegaly	ORPHA:2204
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen...	ORPHA:540
Autoinflammatory Syndrome, Familial, Behcet-Like	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Heme Oxygenase 1 Deficiency	Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Coombs-positive hemo...	OMIM:614034
Cinca Syndrome	Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Portal hypertension, Hepatomegaly, Ascites, Absence of lymph node germinal center, Anemia, Jaundi...	ORPHA:79124
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina...	OMIM:617780
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor...	ORPHA:54251
Cold Agglutinin Disease	Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly	ORPHA:56425
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal...	OMIM:616689
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia	OMIM:611490
Infantile Sialic Acid Storage Disease	Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly	OMIM:269920
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice	OMIM:214900
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ...	OMIM:619632
Spherocytosis, Type 5	Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:612690
Primary Intestinal Lymphangiectasia	Abnormal lymphatic vessel morphology, Ascites, Decreased circulating IgA level, Decreased circula...	ORPHA:90362
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Barth Syndrome	Granulocytopenia, Neutropenia	OMIM:302060
Babesiosis	Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Jaundice	ORPHA:108
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Increased circulating IgE level, Eosinophilia	OMIM:147060
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Nodular goiter, Goiter	ORPHA:97290
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Increased circulating IgE level, Eosinophilia	OMIM:618523
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Increased circulatin...	OMIM:617099
Erythrocytosis, Familial, 8	Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti...	OMIM:222800
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Boutonneuse Fever	Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce...	ORPHA:83313
Gaucher Disease, Type Iii	Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:231000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly	OMIM:314050
Gamma-Heavy Chain Disease	Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t...	ORPHA:100026
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp...	OMIM:616278
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Nodular goiter, Goiter	ORPHA:319487
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n...	OMIM:616828
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	ORPHA:2643
Harderoporphyria	Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:618892
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons...	OMIM:613470
Classic Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He...	ORPHA:3203
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Impaired T cell func...	OMIM:613179
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Specific Granule Deficiency 2	Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules	OMIM:617475
Retinal Venous Beading	Neutropenia	OMIM:180080
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an...	OMIM:235700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ...	OMIM:608203
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:185020
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Omenn Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly...	ORPHA:39041
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:75234
Spherocytosis, Type 4	Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:612653
Pelger-Huet Anomaly	Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit...	OMIM:169400
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	ORPHA:486
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating antibody level, Lympho...	OMIM:617591
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti...	OMIM:300908
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Adult-Onset Still Disease	Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G...	ORPHA:829
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Anemia, Abnormal...	ORPHA:98850
Proteus Syndrome	Lymphangioma, Splenomegaly	OMIM:176920
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Ascites, Splenomegaly	ORPHA:1046
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:185000
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat...	OMIM:301000
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	OMIM:251190
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:182900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Panhypogammaglobulinemia, Absent tonsils, Lymph node hypoplasia	OMIM:602450
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopenia, Thrombocyto...	ORPHA:158048
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:616649
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplasia of liver, Splen...	OMIM:619463
Autoimmune Hemolytic Anemia	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:98375
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Hepatoportal Sclerosis	Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Nodular regenerative hyperplasia of liver,...	ORPHA:64743
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl...	ORPHA:1414
Immunodeficiency 47	Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Decreased circulating total IgA, D...	OMIM:300972
Beta-Thalassemia	Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an...	ORPHA:848
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Nephronophthisis 19	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis	OMIM:616217
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Igg4-Related Submandibular Gland Disease	Cholangitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increas...	ORPHA:449432
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Increased circulating IgE level	ORPHA:2902
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Diamond-Blackfan Anemia 11	Anemia, Neutropenia, Anemia of inadequate production	OMIM:614900
Farber Lipogranulomatosis	Hepatomegaly, Lipogranulomatosis, Splenomegaly	OMIM:228000
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly	OMIM:230900
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly	OMIM:201100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly	OMIM:618398
Igg4-Related Aortitis	Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas...	ORPHA:449400
Neuraminidase Deficiency	Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Splenomegaly	OMIM:256550
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Hyp...	OMIM:617388
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas...	OMIM:600903
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level, Macronodular cirrhosis	OMIM:215250
Wolman Disease	Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly	ORPHA:75233
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Neutropenia	OMIM:600351
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Hyper-Igd Syndrome	Leukocytosis, Lymphadenopathy, Lymphadenitis, Increased circulating IgA level, Splenomegaly, Neut...	OMIM:260920
Cyclic Neutropenia	Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil...	ORPHA:2686
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice	OMIM:266200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ...	OMIM:616084
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice	ORPHA:59303
Fetal Gaucher Disease	Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia	ORPHA:85212
Poikiloderma With Neutropenia	Neutropenia, Splenomegaly	OMIM:604173
Elliptocytosis 1	Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly	OMIM:611804
Felty Syndrome	Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bone marrow h...	ORPHA:47612
Ataxia-Telangiectasia	Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Decreased circulating IgG le...	OMIM:208900
Lichtenstein Syndrome	Neutropenia	OMIM:246550
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim...	ORPHA:572
Common Variable Immunodeficiency	Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Abnormality of the liver, Au...	ORPHA:1572
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:602347
Cinca Syndrome	Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler...	OMIM:617394
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq...	OMIM:612714
Gaucher Disease Type 1	Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy...	ORPHA:77259
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:85414
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell...	OMIM:278000
Roifman Syndrome	Lymphadenopathy, Hepatomegaly, Eosinophilia, Splenomegaly	OMIM:616651
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo...	ORPHA:98849
Glycogen Storage Disease Xii	Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an...	OMIM:611881
Myelofibrosis	Myeloproliferative disorder, Splenomegaly	OMIM:254450
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Sitosterolemia 1	Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet...	OMIM:210250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega...	OMIM:194380
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly	OMIM:608885
Sialidosis Type 2	Hepatomegaly, Ascites, Splenomegaly	ORPHA:87876
Proteasome-Associated Autoinflammatory Syndrome 4	Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly	OMIM:619183
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero...	OMIM:109270
Granulomatous Slack Skin	Abnormality of the lymph nodes	ORPHA:33111
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Letterer-Siwe Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C...	ORPHA:508533
Essential Thrombocythemia	Abnormal platelet morphology, Acute leukemia, Splenomegaly	ORPHA:3318
Sickle Cell Anemia	Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli...	OMIM:603903
Immunodeficiency 23	Neutropenia, Abscess, Increased circulating IgG level, Increased circulating IgE level, Increased...	OMIM:615816
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia	ORPHA:398124
Niemann-Pick Disease, Type A	Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, ...	OMIM:257200
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Cryoglobulinemia, Circulating immune complexes, Spleno...	ORPHA:91138
Dyskeratosis Congenita, Autosomal Recessive 5	Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia	OMIM:615190
Immunodeficiency 10	Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia	OMIM:612783
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm...	OMIM:601847
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Eosinophilia, Lymphocytosis, Hepatitis	ORPHA:139402
T-Cell Immunodeficiency With Thymic Aplasia	Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia	OMIM:242700
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl...	OMIM:612541
Good Syndrome	Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Thymoma, Aplasia/Hypop...	ORPHA:169105
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:613489
Beta-Thalassemia Intermedia	Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel...	ORPHA:231222
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Congenital Rubella Syndrome	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Jaundice	ORPHA:290
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice	OMIM:613812
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Prolidase Deficiency	Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc...	OMIM:233710
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Dehydrated Hereditary Stomatocytosis	Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume...	ORPHA:3202
Transcobalamin Ii Deficiency	Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:275350
Congenital Enterovirus Infection	Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Thrombocytopenia	ORPHA:292
Chediak-Higashi Syndrome	Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly...	OMIM:214500
Immunodeficiency 82 With Systemic Inflammation	B lymphocytopenia, Decreased proportion of naive T cells, Anemia, Splenomegaly, Reduced natural k...	OMIM:619381
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Leukopenia, Lymphadenopathy, Reduced natural killer cell activity, Anemia, Splenome...	OMIM:603553
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Anemia, Abnormality of the p...	ORPHA:83469
Hereditary Elliptocytosis	Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom...	ORPHA:288
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Lympha...	ORPHA:37042
Glycogen Storage Disease Ixc	Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis	OMIM:613027
Autoimmune Hepatitis	Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased circulating IgG level, Acute he...	ORPHA:2137
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90033
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc...	OMIM:233690
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Ascites, Splenomegaly	ORPHA:2414
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg...	OMIM:612301
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Legionnaires Disease	Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Lymphopenia,...	ORPHA:549
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:235555
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:242900
Gaucher Disease, Type I	Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia

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