Gene: H2-Ab1 MGI:103070

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

histocompatibility 2, class II antigen A, beta 1

Synonyms:

H2-Ab, Rmcs1, A beta, Ia2, H-2Ab, Ia-2, Abeta, I-Abeta, IAb, I-A^b

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 H2-Ab1 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 H2-Ab1 (7 diseases)
Human diseases predicted to be associated with H2-Ab1 (1104 diseases)

The table below shows human diseases associated to H2-Ab1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Bullous Pemphigoid	Autoimmunity, Recurrent infections	ORPHA:703
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Macrocytic anemia, Infertility, Short stature, Decreased circulating IgA level, I...	OMIM:212750
Idiopathic Achalasia	Recurrent aspiration pneumonia	ORPHA:930
Multiple Sclerosis, Susceptibility To	Urinary incontinence, Urinary hesitancy	OMIM:126200
Narcolepsy Type 1		ORPHA:2073
Creutzfeldt-Jakob Disease		OMIM:123400
Narcolepsy Type 2		ORPHA:83465

The table below shows human diseases predicted to be associated to H2-Ab1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t...	OMIM:247630
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh...	OMIM:153600
Immunodeficiency 40	Lymphopenia	OMIM:616433
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula...	OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig...	OMIM:618987
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, Impaired memory B cell generation, Decreased circul...	OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Antinuclear antibody positivity...	OMIM:613495
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu...	OMIM:617006
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Immunodeficiency 18	Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce...	OMIM:615615
Transcobalamin Deficiency	Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat...	ORPHA:859
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocytopenia, Lymphopeni...	ORPHA:444463
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph...	OMIM:300853
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor...	OMIM:308220
Autoimmune Lymphoproliferative Syndrome	Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat...	OMIM:601859
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ...	OMIM:613493
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency 14A, Autosomal Dominant	Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec...	OMIM:615513
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia, Decreased circulating total IgM	OMIM:610798
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunoglobulin A Deficiency 1	Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,...	OMIM:137100
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Ras-Associated Autoimmune Leukoproliferative Disorder	Autoimmunity, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, A...	OMIM:614470
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula...	OMIM:300400
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunoglobulin A Deficiency 2	Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent sinopulmonary infectio...	OMIM:609529
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre...	OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iia	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:603909
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Autoimmune Hemolytic Anemia, Cold Type	Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly	ORPHA:228312
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia	OMIM:200900
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia	OMIM:615607
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level...	OMIM:608106
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c...	ORPHA:2134
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos...	OMIM:611926
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency 70	B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci...	OMIM:618969
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased B cell count, Autoimmunity, Decreased proportion of class-switched memory B cells, Neph...	OMIM:615559
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
C1Q Deficiency	Autoimmunity, Systemic lupus erythematosus, Recurrent infections	OMIM:613652
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased...	OMIM:614493
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re...	OMIM:619281
Lupus Erythematosus Tumidus	Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Immunodeficiency 52	Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, D...	OMIM:617514
Immunodeficiency 25	Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir...	OMIM:610163
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre...	OMIM:618261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, A...	ORPHA:277
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe...	OMIM:618495
Agammaglobulinemia 8, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p...	OMIM:312863
Acquired Partial Lipodystrophy	Autoimmunity, Microscopic hematuria, Lymphocytosis, Decreased serum complement C3, Glomerulopathy...	ORPHA:79087
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia	OMIM:183350
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Reticular Dysgenesis	Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis...	OMIM:267500
Immunodeficiency 72 With Autoinflammation	Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Lymp...	OMIM:618982
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease...	OMIM:618534
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce...	OMIM:619375
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen...	OMIM:617241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Cernunnos-Xlf Deficiency	Autoimmunity, B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Throm...	ORPHA:169079
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency, Common Variable, 1	Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw...	OMIM:607594
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou...	OMIM:619510
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur...	OMIM:615008
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia	OMIM:247800
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula...	OMIM:619220
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ...	OMIM:605258
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Systemic Lupus Erythematosus	Lupus nephritis, Leukopenia, Systemic lupus erythematosus, Nephritis, Thrombocytopenia, Hemolytic...	OMIM:152700
Candidiasis, Familial, 2	Lymphadenopathy, Chronic oral candidiasis, Onychomycosis, Chronic tinea infection, Increased circ...	OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,...	ORPHA:169154
Masp2 Deficiency	Systemic lupus erythematosus, Recurrent pneumonia	OMIM:613791
Autoinflammatory Syndrome, Familial, Behcet-Like	Thrombocytopenia, Lymphopenia, Lupus anticoagulant, Hemolytic anemia, Antinuclear antibody positi...	OMIM:616744
Immunodeficiency, Common Variable, 2	Recurrent bacterial infections, Hepatomegaly, Impaired T cell function, Decreased circulating IgA...	OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease...	OMIM:308240
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy...	OMIM:607624
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, Recurrent opportunistic infections, Lymphadenopathy, Failure to thrive secondary to...	OMIM:608971
Congenital Pancreatic Cyst	Pancreatitis, Jaundice	ORPHA:313906
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Heinz Body Anemias	Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia	OMIM:140700
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas...	ORPHA:276
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Immunodeficiency 32A	Lymphadenopathy, Recurrent infections	OMIM:614893
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease...	ORPHA:331206
Primary Membranoproliferative Glomerulonephritis	C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi...	ORPHA:54370
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM	OMIM:300636
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ...	OMIM:613496
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circ...	OMIM:615285
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Lymphoproliferative Syndrome 2	Hepatomegaly, Sepsis, Severe varicella zoster infection, Lymphadenopathy, Decreased circulating a...	OMIM:615122
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	ORPHA:2643
Adult Idiopathic Neutropenia	Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia	ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec...	ORPHA:169160
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Autoimmune Hemolytic Anemia	Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology	ORPHA:98375
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:616100
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati...	OMIM:202700
Immunodeficiency 76	B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia,...	OMIM:619164
Immunodeficiency 48	Hepatomegaly, Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly	OMIM:269840
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi...	OMIM:613101
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Recurrent mycobacterial infections	OMIM:616126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me...	OMIM:600802
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr...	OMIM:608184
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia, Increased level of L-pyroglutamic acid in urine	OMIM:266130
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Lymphadenopathy, Hepatosplenomegaly, Recur...	OMIM:619126
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Neutropenia, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarged to...	OMIM:308230
C3 Glomerulopathy	Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ...	ORPHA:329918
Lecithin:Cholesterol Acyltransferase Deficiency	Normochromic anemia, Hemolytic anemia, Renal insufficiency, Proteinuria	OMIM:245900
Immunodeficiency 7	Autoimmunity, Recurrent infections	OMIM:615387
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo...	ORPHA:911
Porphyria, Acute Hepatic	Hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:612740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec...	ORPHA:70593
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt...	OMIM:618986
Complement Component C1R/C1S Deficiency	Autoimmunity, Recurrent bronchitis	OMIM:216950
Diffuse Alveolar Hemorrhage	Autoimmunity, Leukocytosis, Antineutrophil antibody positivity, Decreased serum complement C4, He...	ORPHA:90060
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil...	ORPHA:572
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Immunodeficiency 27A	Leukocytosis, Thrombocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno...	OMIM:209950
Cold Agglutinin Disease	Autoimmunity, Hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:56425
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM	OMIM:251190
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia	OMIM:613500
Alopecia Areata 1	Autoimmunity	OMIM:104000
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating...	ORPHA:100024
Kerion Celsi	Lymphadenopathy, Recurrent cutaneous abscess formation	ORPHA:499
Pediatric Systemic Lupus Erythematosus	Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Nephrotic syndrome, Antineutroph...	ORPHA:93552
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level	OMIM:617744
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency	ORPHA:375
Autoimmune Lymphoproliferative Syndrome	Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N...	ORPHA:3261
Immunodeficiency 55	Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Recurrent infection...	OMIM:617827
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo...	ORPHA:35078
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia	OMIM:615592
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Glutamate-Cysteine Ligase Deficiency	Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria	ORPHA:33574
Selective Igm Deficiency	Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut...	ORPHA:331235
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Recurrent infections	OMIM:618048
Alpha-Heavy Chain Disease	Hepatomegaly, Growth delay, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Prematur...	ORPHA:100025
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Schnitzler Syndrome	Anemia, Leukocytosis, Increased circulating IgM level, Splenomegaly	ORPHA:37748
Gallbladder Disease 1	Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti...	OMIM:600803
Thymic Aplasia	Sepsis, Lymphadenopathy, Recurrent infections, Recurrent candida infections, Oligoclonal T cell e...	ORPHA:83471
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus	OMIM:614420
Chylous Ascites	Pancreatitis	ORPHA:1160
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu...	ORPHA:275
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities	Hypospadias, Micropenis, Hepatosplenomegaly, Hemolytic anemia	OMIM:600461
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S...	OMIM:102700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblas...	OMIM:617780
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria	OMIM:189800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Decreased lymphocyte proli...	OMIM:606367
Purine Nucleoside Phosphorylase Deficiency	Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an...	OMIM:613179
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Pulmonary Nodular Lymphoid Hyperplasia, Familial	Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi...	OMIM:178610
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red...	OMIM:619374
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis	OMIM:243300
Lymphoproliferative Syndrome 1	Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating...	OMIM:613011
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Transcobalamin Ii Deficiency	Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:275350
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Preeclampsia	Autoimmunity, Acute kidney injury, Chronic kidney disease, Thrombocytopenia, Proteinuria, Abnorma...	ORPHA:275555
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer...	OMIM:618108
Paroxysmal Cold Hemoglobinuria	Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an...	ORPHA:90035
Insulin Autoimmune Syndrome	Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Increased circulating...	ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613502
Eosinophilopenia	Autoimmunity, Decreased eosinophil count	OMIM:131430
Pgm3-Cdg	Autoimmunity, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Rheumatoid facto...	ORPHA:443811
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope...	ORPHA:54057
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomega...	ORPHA:231154
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc...	ORPHA:766
Immunodeficiency 36	Recurrent bacterial infections, Chronic lymphatic leukemia, Growth delay, Short stature, Decrease...	OMIM:616005
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Systemic lupus erythematosus	OMIM:613779
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Bare Lymphocyte Syndrome, Type Ii	Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan...	OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anti-glutamic acid decarboxylase antibody positivity, Neutropenia, Glomerulonephritis, Coombs-pos...	OMIM:304790
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Hypogonadism, Recurrent cand...	OMIM:201100
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Lipoprotein Glomerulopathy	Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo...	ORPHA:2585
Hemoglobin E Disease	Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ...	ORPHA:2133
Harderoporphyria	Hemolytic anemia, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis, Increased uri...	OMIM:618892
T-Cell Immunodeficiency With Thymic Aplasia	Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu...	OMIM:242700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca...	OMIM:150550
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Myasthenia Gravis	Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Muscle specific ki...	ORPHA:589
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Rosaï-Dorfman Disease	Lymphadenopathy, Dysgammaglobulinemia, Anemia	ORPHA:158014
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula...	OMIM:616871
Immunodeficiency 54	Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Recurrent viral in...	OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Nephrotic syndrome, Abscess, Rheumatoid factor positive, Splenomegaly, Perianal abscess, Hepatosp...	OMIM:618935
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Sickle Cell Anemia	Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ...	ORPHA:232
Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Roifman Syndrome	Intrauterine growth retardation, Short stature, Lymphadenopathy, Hypogonadotropic hypogonadism, D...	ORPHA:353298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ...	OMIM:242860
X-Linked Lymphoproliferative Disease	Autoimmunity, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dy...	ORPHA:2442
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Aicardi-Goutieres Syndrome 6	Hemolytic anemia	OMIM:615010
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc...	ORPHA:79124
Chilblain Lupus	Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Rheumatoid factor positive, Increa...	ORPHA:90280
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice	OMIM:312500
Unclassified Myelodysplastic Syndrome	Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia	ORPHA:98827
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr...	OMIM:300291
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia	OMIM:605309
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
Heme Oxygenase 1 Deficiency	Thrombocytosis, Increased circulating interleukin 6, Asplenia, Coombs-positive hemolytic anemia, ...	OMIM:614034
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat...	OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Alpha-Thalassemia	Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia	ORPHA:846
Bone Marrow Failure Syndrome 4	Leukopenia, Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Bone marrow ...	OMIM:618116
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	ORPHA:90362
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex	Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing...	OMIM:260480
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis	ORPHA:66661
Immunodeficiency 23	Neutropenia, Abscess, Rheumatoid factor positive, Increased circulating IgG level, Increased circ...	OMIM:615816
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re...	ORPHA:217390
Benign Recurrent Intrahepatic Cholestasis	Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease...	ORPHA:65682
Immunodeficiency 31C	Autoimmunity, Lymphopenia, Autoimmune hemolytic anemia	OMIM:614162
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hepatitis, Decreased circulating antibody level, Recurrent infections, Splenomegaly...	OMIM:300635
Galactosemia I	Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Galactosuria, Hemolytic anemia	OMIM:230400
Immunodeficiency 92	Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel...	OMIM:619652
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Dark urine	OMIM:301015
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Hypochromia, Positive direct antiglobulin test, Stomatocytos...	ORPHA:71275
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Boutonneuse Fever	Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia	ORPHA:83313
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat...	OMIM:301000
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency	ORPHA:108
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Sepsis, Anemia, Abnormality of the ly...	OMIM:612840
Neonatal Lupus Erythematosus	Neutropenia, Anemia, Splenomegaly, Autoimmune antibody positivity, Aplastic anemia, Pancytopenia,...	ORPHA:398124
Hyperprolinemia Type 1	Prolinuria, Proteinuria, Nephropathy	ORPHA:419
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis, Exer...	OMIM:232800
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease	OMIM:603278
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Catastrophic Antiphospholipid Syndrome	Anti-beta 2 glycoprotein I antibody positivity, Abnormality of serum cytokine level, Thrombocytop...	ORPHA:464343
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, Lymphadenopathy, Recurrent infections, Splenomegaly, Decreased circulating total IgM, Pan...	OMIM:614700
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Tularemia	Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anem...	ORPHA:3392
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia, Proteinuria	OMIM:618882
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Anemia, Pure red cell aplasia	OMIM:618165
Reticular Dysgenesis	Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymu...	ORPHA:33355
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmunity, Decreased urinary urate, Systemic lupus erythematosus, ...	ORPHA:760
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki...	OMIM:612926
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali...	ORPHA:543
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani...	OMIM:300908
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m...	OMIM:616689
Lcat Deficiency	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei...	ORPHA:650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased circulating total IgM	OMIM:614878
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Leishmaniasis	Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:507
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop...	OMIM:254900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular vo...	OMIM:611590
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Juvenile Arthritis	Thrombocytosis, Leukocytosis, Antinuclear antibody positivity	OMIM:618795
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Decreased circulating IgA ...	OMIM:215250
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf...	ORPHA:713
Immunodeficiency, Common Variable, 10	Anti-thyroid peroxidase antibody positivity, Decreased circulating IgA level, Recurrent viral upp...	OMIM:615577
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenopathy, Hepatomegaly, Recurrent infections, Growth delay	OMIM:615895
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level...	OMIM:600903
Idiopathic Non-Lupus Full-House Nephropathy	Abnormal glomerular mesangium morphology, Nephrotic syndrome, Decreased serum complement C4, Comp...	ORPHA:567544
Dehydrated Hereditary Stomatocytosis	Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume...	ORPHA:3202
Immunodeficiency 13	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD...	OMIM:615518
Fechtner syndrome	Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki...	OMIM:153640
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia	OMIM:601495
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis	OMIM:167800
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia, Proteinuria	OMIM:261100
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma...	OMIM:233710
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Increased circulating IgA level, Rheumatoid factor positive, Incre...	OMIM:619632
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Immunodeficiency 22	Autoimmunity, Decreased proportion of CD4-positive helper T cells	OMIM:615758
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Spastic Paraplegia-Nephritis-Deafness Syndrome	Proteinuria, Nephropathy	ORPHA:2820
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto...	OMIM:603552
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency	OMIM:161900
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He...	ORPHA:3203
Immunodeficiency 61	Agammaglobulinemia	OMIM:300310
Neurodegeneration, Infantile-Onset, Biotin-Responsive	Decreased circulating IgG level	OMIM:618973
Omenn Syndrome	Recurrent bacterial infections, Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Recurrent funga...	OMIM:603554
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma...	OMIM:233690
Schimke Immuno-Osseous Dysplasia	Autoimmunity, Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neut...	ORPHA:1830
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency	ORPHA:2613
Igg4-Related Aortitis	Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo...	ORPHA:449400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Immunodeficiency, Common Variable, 12, With Autoimmunity	Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia	OMIM:616576
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Felty Syndrome	Hepatomegaly, Sepsis, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow h...	ORPHA:47612
Low Phospholipid-Associated Cholelithiasis	Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Pancreatitis, Cholelithiasis, N...	ORPHA:69663
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:613944
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:618176
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ...	ORPHA:98848
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Antinuclear antibody positivity	ORPHA:90159
Griscelli Syndrome	Hepatomegaly, Leukopenia, Short stature, Lymphadenopathy, Decreased circulating antibody level, B...	ORPHA:381
Combined Immunodeficiency With Faciooculoskeletal Anomalies	B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci...	ORPHA:221139
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom...	ORPHA:3226
Combined Immunodeficiency Due To Crac Channel Dysfunction	Autoimmunity, Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu...	OMIM:616818
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ...	OMIM:601894
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Nephrotic syndrome, Monoclonal immunoglobulin M proteinemia, Nephriti...	ORPHA:91139
Ataxia-Telangiectasia	Short stature, Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell ...	OMIM:208900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly	OMIM:314050
Myotonic Dystrophy 2	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:602668
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen...	ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa...	OMIM:619201
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria	OMIM:105200
Combined Oxidative Phosphorylation Deficiency 52	Hepatic steatosis, Adrenal insufficiency, Pancreatitis	OMIM:619386
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy...	OMIM:308990
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k...	OMIM:603965
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep...	OMIM:603471
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Nephrotic Syndrome, Type 16	Hematuria, Proteinuria, Nephrotic syndrome	OMIM:617783
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmunity, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia	ORPHA:90036
Focal Segmental Glomerulosclerosis 7	Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616002
Nephrotic Syndrome, Type 19	Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,...	OMIM:618178
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hepatic steatosis	OMIM:618805
Vici Syndrome	Recurrent bacterial infections, Growth delay, Recurrent fungal infections, Cutaneous anergy, Decr...	OMIM:242840
Lichtenstein Syndrome	Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections	OMIM:246550
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Proteinuria, Anemia, Renal insufficiency	ORPHA:2668
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Increased circulating ...	OMIM:617591
Dyskeratosis Congenita, Autosomal Recessive 5	Intrauterine growth retardation, Leukopenia, Decreased circulating antibody level, Bone marrow hy...	OMIM:615190
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephrotic syndrome, Proteinuria, Anemia, Nephropathy	ORPHA:1192
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Hyper-Igd Syndrome	Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi...	OMIM:260920
Macrophage Activation Syndrome	Autoimmunity, Increased circulating interleukin 6, Neutropenia, Systemic lupus erythematosus, Ane...	ORPHA:158061
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia...	OMIM:615934
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Microangiopathic hemolytic anemia, Decreased serum complement factor H, Anuria, H...	OMIM:235400
Spherocytosis, Type 5	Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly	OMIM:612690
Roifman Syndrome	Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Recurrent otitis m...	OMIM:616651
Subcorneal Pustular Dermatosis	Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth...	ORPHA:48377
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E...	OMIM:109270
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia	OMIM:616649
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hemolytic anemia	ORPHA:57
Cyclic Neutropenia	Sepsis, Peritonitis, Lymphadenopathy, Opportunistic infection, Perianal abscess, Lymphopenia, Cyc...	ORPHA:2686
Autoimmune Hemolytic Anemia, Warm Type	Autoimmunity, Chronic lymphatic leukemia, Systemic lupus erythematosus, Splenomegaly, Abnormal ur...	ORPHA:90033
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph...	OMIM:608709
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic...	OMIM:614131
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Intrauterine growth retardation, Growth delay, Impaired T cell function, Recurrent ...	OMIM:614576
Hereditary Chronic Pancreatitis	Pancreatic calcification, Recurrent pancreatitis, Jaundice	ORPHA:676
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ...	OMIM:619313
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Decreased serum complement C4, Hematuria, Anemia, Autoimmune antibody positivit...	ORPHA:231111
Pfapa Syndrome	Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis	ORPHA:42642
Immunodeficiency 68	B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel...	OMIM:612260
Myh9-Related Disease	Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit...	ORPHA:182050
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Mening...	ORPHA:545
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei...	OMIM:613237
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ...	OMIM:242900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle...	ORPHA:101096
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency	OMIM:607832
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph...	OMIM:613913
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased red cell hemolysis by shear stress, Hemoglobinuria, Splenomegaly, Exercise-induced hemo...	OMIM:194380
Common Variable Immunodeficiency	Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hem...	ORPHA:1572
Mixed Connective Tissue Disease	Autoimmunity, Leukopenia, Splenomegaly, Nephropathy, Hemolytic anemia	ORPHA:809
Cinca Syndrome	Leukocytosis, Growth delay, Lymphadenopathy, Anemia, Meningitis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:185020
Pemphigus Vulgaris	Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation	ORPHA:704
Classic Mycosis Fungoides	Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:2584
Spondyloenchondrodysplasia	Autoimmunity, Pancytopenia, Chronic kidney disease, Hematuria, Systemic lupus erythematosus, Auto...	ORPHA:1855
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy...	OMIM:274150
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ...	ORPHA:183675
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Leukemia, Decreased circulating...	OMIM:210900
Wilson Disease	Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Protein...	OMIM:277900
Spherocytosis, Type 4	Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly	OMIM:612653
Sickle Cell Anemia	Leukocytosis, Hematuria, Splenomegaly, Increased red cell sickling tendency, Hemolytic anemia, Re...	OMIM:603903
Thymoma	Autoimmunity, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Anti-acetylchol...	ORPHA:99867
Hereditary Elliptocytosis	Congenital hemolytic anemia, Stomatocytosis, Splenomegaly, Poikilocytosis, Reticulocytosis, Abnor...	ORPHA:288
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis	OMIM:141700
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Immunodeficiency 47	Decreased circulating total IgA, Normocytic anemia, Decreased circulating total IgG, Leukopenia, ...	OMIM:300972
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor...	OMIM:611555
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis	OMIM:266140
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level	OMIM:102730
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, BCGosis, Monocytosis, Lymphadenopathy, Recurrent lower respiratory tract infections...	OMIM:619644
Immunodeficiency 66	Sepsis, Defective T cell proliferation	OMIM:618847
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria	OMIM:161950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respiratory tract i...	OMIM:602450
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism	OMIM:145001
Isolated Agammaglobulinemia	Autoimmunity, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Thro...	ORPHA:229717
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidneys, Renal salt wasti...	OMIM:613845
Erythrocytosis, Familial, 8	Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:222800
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Bloom Syndrome	Oligospermia, Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent herpes, ...	ORPHA:125
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis	ORPHA:399180
Congenital Disorder Of Glycosylation, Type Iif	Neutropenia, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Aminoaciduria, Ma...	OMIM:603585
Nephrotic Syndrome, Type 15	Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome	OMIM:617609
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia	OMIM:612692
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Spherocytosis, Type 1	Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly	OMIM:182900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:508533
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Autoimmunity, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Decreased T cell activatio...	ORPHA:66628
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy...	OMIM:235700
Gamma-Heavy Chain Disease	Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ...	ORPHA:100026
Protoporphyria, Erythropoietic, 1	Hemolytic anemia	OMIM:177000
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor...	ORPHA:54251
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Wiskott-Aldrich Syndrome	Autoimmunity, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, ...	ORPHA:906
Good Syndrome	Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Recurrent urinary trac...	ORPHA:169105
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Sitosterolemia 1	Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi...	OMIM:210250
Rat-Bite Fever	Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi...	ORPHA:31205
Elliptocytosis 2	Reticulocytosis, Hemolytic anemia, Elliptocytosis	OMIM:130600
Immunodeficiency 10	Recurrent bacterial infections, Lymphadenopathy, Recurrent infections, Thrombocytopenia, Autoimmu...	OMIM:612783
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Rheumatoid factor positive, Chronic kidney disease, Eosinophilia, I...	ORPHA:449395
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome...	OMIM:310468
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel...	ORPHA:98850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:79312
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:615573
Tropical Pancreatitis	Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P...	ORPHA:103918
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Decreased T cell activatio...	ORPHA:179494
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function	ORPHA:30
Mucopolysaccharidosis-Plus Syndrome	Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Increased circulating...	OMIM:617303
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Mevalonic Aciduria	Fluctuating splenomegaly, Leukocytosis, Short stature, Normocytic hypoplastic anemia, Lymphadenop...	OMIM:610377
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity	ORPHA:163703
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:185000
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Neuraminidase Deficiency	Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, Bone-marrow foam cells,...	OMIM:256550
Elliptocytosis 3	Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis	OMIM:617948
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Decreased mean platelet volume, Recurrent infections, Lymphocytosis, Thrombocyto...	OMIM:617718
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ...	ORPHA:79330
Lipodystrophy, Familial Partial, Type 7	Pancreatitis	OMIM:606721
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibod...	OMIM:615952
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Hypocomplementemic Urticarial Vasculitis

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