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, Abeta, Ia-2, 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 (1135 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	Infertility, Decreased circulating IgA level, Short stature, Iron deficiency anemia, Macrocytic a...	OMIM:212750
Idiopathic Achalasia	Recurrent aspiration pneumonia	ORPHA:930
Multiple Sclerosis, Susceptibility To	Urinary hesitancy, Urinary incontinence	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	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M...	OMIM:153600
Immunodeficiency 40	Lymphopenia	OMIM:616433
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Antinuclear antibody positivity, Chronic decreased circulating to...	OMIM:613495
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot process effacem...	OMIM:617006
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 18	Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D...	OMIM:615615
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	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
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a...	ORPHA:444463
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Medi...	OMIM:300853
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,...	OMIM:308220
Autoimmune Lymphoproliferative Syndrome	Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre...	OMIM:601859
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Autoimmunity,...	OMIM:137100
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Immunoglobulin A Deficiency 2	Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Recurrent sin...	OMIM:609529
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Decre...	OMIM:300400
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Nephrotic syndrome, Smooth muscle antibody positivity, Splenomegaly, ...	OMIM:603909
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, 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	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Atypical Hemolytic Uremic Syndrome	Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ...	ORPHA:2134
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Nephrotic syndrome, Anticardiolipin IgG antibody positivity...	OMIM:615559
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti...	OMIM:610163
Immunodeficiency 48	Recurrent candida infections, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Absence of CD...	OMIM:269840
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
C1Q Deficiency	Systemic lupus erythematosus, Autoimmunity, Recurrent infections	OMIM:613652
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope...	OMIM:614493
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu...	OMIM:618261
Lupus Erythematosus Tumidus	Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity...	ORPHA:90283
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Recurrent opp...	ORPHA:277
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Recurrent sinopulmonary infections, Absent specific antibody response, Follicular hy...	OMIM:619846
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat...	OMIM:212050
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromboc...	OMIM:619375
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgE level, Increased circu...	OMIM:618982
Acquired Partial Lipodystrophy	Lymphocytosis, Decreased serum complement C3, Autoimmunity, Proteinuria, Glomerulopathy, Microsco...	ORPHA:79087
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Sepsis, Leukopenia, Congenital ag...	OMIM:267500
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre...	OMIM:618534
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Autoimmunity, Decreased circulating antibody l...	ORPHA:169079
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega...	OMIM:607594
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ...	OMIM:615008
Immunodeficiency With Hyper-Igm, Type 2	Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren...	OMIM:605258
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619510
Candidiasis, Familial, 1	Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Hemoly...	OMIM:152700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level...	ORPHA:169154
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec...	OMIM:240500
Masp2 Deficiency	Systemic lupus erythematosus, Recurrent pneumonia	OMIM:613791
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocu...	OMIM:608971
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytop...	OMIM:616744
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy...	OMIM:607624
Congenital Pancreatic Cyst	Pancreatitis, Jaundice	ORPHA:313906
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis	ORPHA:60026
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni...	OMIM:619802
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG level, ...	OMIM:618495
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ...	OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infect...	ORPHA:276
Immunodeficiency 32A	Lymphadenopathy, Recurrent infections	OMIM:614893
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly	OMIM:206400
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Nephrotic syndrome, Decreased serum complement C3, C3 nephritic factor po...	ORPHA:54370
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Decrease...	OMIM:613496
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L...	OMIM:615285
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Recurrent b...	OMIM:619164
Lymphoproliferative Syndrome 2	EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag...	OMIM:615122
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer...	ORPHA:169160
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormality of the lymph nodes	OMIM:136580
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia, Autoimmunity	ORPHA:98375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ...	OMIM:600802
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Recu...	OMIM:613101
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Lymphadenopathy	OMIM:616126
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 75	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Immunodeficiency With Hyper-Igm, Type 4	Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe...	OMIM:608184
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia	OMIM:266130
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen...	ORPHA:329918
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Proteinuria, Renal insufficiency	OMIM:245900
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Sepsis, Absence of lymph node germinal center, D...	OMIM:308230
Porphyria, Acute Hepatic	Hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:612740
Immunodeficiency 7	Autoimmunity, Recurrent infections	OMIM:615387
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in...	OMIM:618986
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Leukocytosis, Decreased serum complement C3, Antineutrophil...	ORPHA:90060
Complement Component C1R/C1S Deficiency	Recurrent bronchitis, Autoimmunity	OMIM:216950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Mahvash Disease	Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia	OMIM:619290
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati...	ORPHA:572
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly	ORPHA:56425
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr...	OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Alopecia Areata 1	Autoimmunity	OMIM:104000
Kerion Celsi	Lymphadenopathy, Recurrent cutaneous abscess formation	ORPHA:499
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Bone marrow hypocellular...	ORPHA:3261
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ...	ORPHA:100024
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Growth delay, Anemia, Lymphadenopathy, Prematur...	ORPHA:100025
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Pediatric Systemic Lupus Erythematosus	Dark urine, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Lymphopenia, Neph...	ORPHA:93552
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ...	ORPHA:35078
Complement Component C1S Deficiency	Systemic lupus erythematosus, Hashimoto thyroiditis	OMIM:613783
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, D...	OMIM:301078
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Anti-Glomerular Basement Membrane Disease	Hematuria, Autoimmunity, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia	ORPHA:375
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria	ORPHA:33574
Selective Igm Deficiency	Onychomycosis, Recurrent infection of the gastrointestinal tract, Lymphadenitis, Sepsis, Severe v...	ORPHA:331235
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Thymic Aplasia	Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,...	ORPHA:83471
Chylous Ascites	Pancreatitis	ORPHA:1160
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus	OMIM:614420
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice	OMIM:243300
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria	OMIM:189800
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro...	OMIM:613179
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus, Abnormally low T cell ...	OMIM:242700
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
Lymphoproliferative Syndrome 1	Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope...	OMIM:613011
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:275350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R...	ORPHA:275
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Gallbladder Disease 1	Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Hepatic fibrosis, Cholesterol gallstone...	OMIM:600803
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Preeclampsia	Chronic kidney disease, Abnormality of the kidney, Autoimmunity, Proteinuria, Acute kidney injury...	ORPHA:275555
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Systemic lupus erythematosus, Recurrent pneumonia, Recurrent tons...	OMIM:613779
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Coombs-positive hemolytic an...	ORPHA:90035
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Bone marrow hypocellular...	ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Recurrent viral infections, Recu...	OMIM:618048
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Insulin Autoimmune Syndrome	Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti...	ORPHA:411593
Eosinophilopenia	Autoimmunity, Decreased eosinophil count	OMIM:131430
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities	Hemolytic anemia, Hypospadias, Hepatosplenomegaly, Micropenis	OMIM:600461
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Thrombotic Thrombocytopenic Purpura	Hematuria, Proteinuria, Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anem...	ORPHA:54057
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 17	T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro...	OMIM:615607
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex...	OMIM:602450
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy	ORPHA:482
Bare Lymphocyte Syndrome, Type Ii	Recurrent protozoan infections, Recurrent fungal infections, Viral hepatitis, Recurrent bacterial...	OMIM:209920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Glomerulonephritis, ...	OMIM:304790
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Immunodeficiency 54	Intrauterine growth retardation, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Short ...	OMIM:609981
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria, Reticulocytosis, Erythroid...	OMIM:300653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia	OMIM:601457
Lipoprotein Glomerulopathy	Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria	OMIM:611771
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia...	OMIM:150550
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Systemic lupus erythematosus, Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory an...	OMIM:616871
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Nephrotic syndrome, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Rheumatoid factor pos...	OMIM:618935
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification	OMIM:608189
Harderoporphyria	Splenomegaly, Increased urinary porphobilinogen, Hemolytic anemia, Increased urine harderoporphyr...	OMIM:618892
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Dysgammaglobulinemia	ORPHA:158014
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Roifman Syndrome	Short stature, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Decreased circula...	ORPHA:353298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Decreased serum complement C3, Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemo...	OMIM:612925
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Myasthenia Gravis	Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis...	ORPHA:589
Aicardi-Goutieres Syndrome 6	Hemolytic anemia	OMIM:615010
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Pancreatitis, Hepatomegaly	ORPHA:79084
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobu...	ORPHA:79124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Decreased serum complement C3, Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemo...	OMIM:612922
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Chilblain Lupus	Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe...	ORPHA:90280
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Sepsis, B lymphocytopenia, Decreased circulating IgE, Decreased circulatin...	OMIM:300755
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections	OMIM:605309
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased...	OMIM:615767
Systemic Lupus Erythematosus 17	Systemic lupus erythematosus, Lymphopenia, Decreased serum complement C3, Leukopenia, Anti-aquapo...	OMIM:301080
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer...	OMIM:137950
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Coombs-positive hemolytic anemia, Nephritis, H...	OMIM:614034
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro...	OMIM:601894
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Rheumatoid factor positive, Membranoproliferative glomerulone...	OMIM:615816
Rh Deficiency Syndrome	Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Positive direct antiglobulin test, ...	ORPHA:71275
Catastrophic Antiphospholipid Syndrome	Anti-beta 2 glycoprotein I antibody positivity, Antiphospholipid antibody positivity, Systemic lu...	ORPHA:464343
Immunodeficiency 31C	Autoimmune hemolytic anemia, Autoimmunity, Lymphopenia	OMIM:614162
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a...	OMIM:300635
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen...	ORPHA:217390
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Jau...	ORPHA:65682
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Exer...	OMIM:232800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thymus, Absent specifi...	OMIM:102700
Bone Marrow Failure Syndrome 4	Short stature, Leukopenia, Rhizomelia, Decreased circulating antibody level, Bone marrow hypocell...	OMIM:618116
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Anemia, Proteinuria, Stage 5 chronic kidney disease	OMIM:603278
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Renal insufficiency, Thrombocytopenia	ORPHA:108
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Recurrent respiratory infections, Leukocytosis, Splenomegaly	OMIM:618042
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Dark urine	OMIM:301015
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	ORPHA:90362
Boutonneuse Fever	Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level	ORPHA:83313
Neonatal Lupus Erythematosus	Neutropenia, Splenomegaly, Aplastic anemia, Autoimmune antibody positivity, Hemolytic anemia, Pan...	ORPHA:398124
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia, Proteinuria	OMIM:618882
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:301000
Tularemia	Cutaneous abscess, Increased circulating antibody level, Abnormal nasopharyngeal adenoid morpholo...	ORPHA:3392
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani...	OMIM:613673
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased...	ORPHA:543
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:612126
Galactosemia I	Increased level of galactitol in urine, Aminoaciduria, Hemolytic anemia, Galactosuria, Albuminuria	OMIM:230400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Abnormal...	OMIM:215250
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici...	OMIM:254900
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi...	OMIM:613092
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage...	ORPHA:507
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hematuria, Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Thrombocy...	OMIM:612926
Lcat Deficiency	Decreased glomerular filtration rate, Hemolytic anemia, Proteinuria, Acute kidney injury, Renal i...	ORPHA:650
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Distal renal tubular aci...	OMIM:611590
Juvenile Arthritis	Thrombocytosis, Antinuclear antibody positivity, Leukocytosis	OMIM:618795
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m...	OMIM:616689
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Pancytopenia, Lym...	OMIM:614700
Purine Nucleoside Phosphorylase Deficiency	Systemic lupus erythematosus, Lymphopenia, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune ...	ORPHA:760
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Lymphocytosis, Leuk...	OMIM:619652
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Renal insufficiency, Reticul...	ORPHA:713
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Glomerular C3 deposition, Decreased serum complement C3, Complement deficienc...	ORPHA:567544
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Fechtner syndrome	Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant...	OMIM:153640
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia, Microscopic hematuria, Proteinuria	OMIM:261100
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie...	OMIM:233710
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Hemoglobinuria, Poikilocytosis, Fava bean...	OMIM:300908
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Autoimmunity	OMIM:615758
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification	OMIM:167800
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:600903
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Renal Failure, Progressive, With Hypertension	Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease	OMIM:161900
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Lymphadenitis, Recurrent Klebsie...	OMIM:233690
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa...	OMIM:603552
Omenn Syndrome	Recurrent fungal infections, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, ...	OMIM:603554
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Nephrotic range proteinuria, Impaired T cell function, Nephropathy, Abnormal proport...	ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria	ORPHA:2613
Igg4-Related Aortitis	Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Au...	ORPHA:449400
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha...	ORPHA:3162
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Immunodeficiency 61	Agammaglobulinemia	OMIM:300310
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Nephrotic Syndrome, Type 17	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi...	OMIM:618176
Iga Nephropathy, Susceptibility To, 2	Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease	OMIM:613944
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang...	ORPHA:69663
Felty Syndrome	Hepatomegaly, Splenomegaly, Sepsis, Recurrent urinary tract infections, Abnormal lymphocyte morph...	ORPHA:47612
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Thrombocytopenia, Abnormality of neutrophi...	ORPHA:381
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Splenomegaly, Anisocytosis, Schistocytosis, Hemolytic anemia, Po...	OMIM:224120
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ...	ORPHA:98848
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal...	ORPHA:3226
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Abnormal immunoglobulin level	ORPHA:90159
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Thrombocytopenia, Autoimmunity, Splenomegaly	ORPHA:169090
Iga Nephropathy, Susceptibility To, 3	Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr...	OMIM:616818
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Simple Cryoglobulinemia	Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Abnormality of the kidney, Complement ...	ORPHA:91139
Nephrotic Syndrome, Type 23	Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero...	OMIM:619201
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Anti-islet antigen-2 ant...	OMIM:620044
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Short stature, Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level, Recur...	OMIM:619750
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Focal Segmental Glomerulosclerosis 2	Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag...	OMIM:603965
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Immunodeficiency, Common Variable, 10	Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia...	OMIM:615577
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Hepatic steatosis, Pancreatitis	OMIM:619386
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Portal inflammation, Hepatic steatosis,...	OMIM:603471
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Reticular Dysgenesis	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia	ORPHA:33355
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Nephrotic Syndrome, Type 16	Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we...	OMIM:308990
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro...	OMIM:618178
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatic steatosis, Pancreatitis, Hepatomegaly	OMIM:618805
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity	ORPHA:90036
Amyloidosis, Familial Visceral	Nephrotic syndrome, Splenomegaly, Nephropathy, Hematuria, Proteinuria	OMIM:105200
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Thrombocytopenia, ...	OMIM:617591
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Postnatal growth r...	OMIM:615190
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise...	OMIM:256020
Vici Syndrome	Growth delay, Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial i...	OMIM:242840
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephrotic syndrome, Nephropathy, Proteinuria	ORPHA:1192
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Renal insufficiency, Proteinuria	ORPHA:2668
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Focal Segmental Glomerulosclerosis 6	Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo...	OMIM:614131
Hyper-Igd Syndrome	Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating IgA lev...	OMIM:260920
Roifman Syndrome	Hepatomegaly, Splenomegaly, Short stature, Eosinophilia, Recurrent pneumonia, Recurrent otitis me...	OMIM:616651
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Hemoglobinuria	OMIM:266120
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp...	OMIM:614576
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Increased circulating IgA level, Leukopenia, Follicular hyperplasia, Increased circu...	OMIM:615934
Cyclic Neutropenia	Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Opportunistic infection, Peritoniti...	ORPHA:2686
Immunodeficiency 68	Lymphadenitis, Sepsis, Abscess, B lymphocytopenia, T lymphocytopenia, Recurrent meningitis, Abnor...	OMIM:612260
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema...	OMIM:608709
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased serum complement factor H, Decreased serum complement factor B, Decreased serum complem...	OMIM:235400
Immunodeficiency 55	Lymphopenia, Short stature, Absent natural killer cells, Recurrent infections, Neutropenia, Postn...	OMIM:617827
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Meningitis, Lymphadenop...	ORPHA:545
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis	OMIM:301083
Myh9-Related Disease	Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ...	ORPHA:182050
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Systemic lupus erythematosus, Splenomegaly, Chronic lymphatic leukemia, A...	ORPHA:90033
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis	OMIM:616649
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:158061
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Drug-Induced Lupus Erythematosus	Decreased serum complement C3, Decreased serum complement C4, Antinuclear antibody positivity, He...	ORPHA:231111
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Myoglobinuria, Acute kidney injury	ORPHA:57
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis	ORPHA:676
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency	OMIM:607832
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Infectious encephalitis, Lymphadenopathy	ORPHA:42642
Sickle Cell Anemia	Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cells, Renal insufficiency, Incre...	OMIM:603903
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Increased mean corpus...	OMIM:194380
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimm...	ORPHA:48377
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema...	OMIM:613913
Carcinoma Of Esophagus	Lymphadenopathy	ORPHA:70482
Solute carrier family 4 (anion exchanger), member 1	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re...	OMIM:109270
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Recurrent candida infections, Hepatomegaly, Short stature, Splenomegaly, Impaired T cell function...	OMIM:201100
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Splenomegaly, Granuloma, Lymphadenitis, Recurr...	OMIM:306400
Cinca Syndrome	Leukocytosis, Eosinophilia, Hepatosplenomegaly, Meningitis, Growth delay, Anemia, Lymphadenopathy	OMIM:607115
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Schistocytosis, Proteinuria, Microangiopathic hemolytic anemia, Reticu...	OMIM:274150
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a...	ORPHA:1572
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Mixed Connective Tissue Disease	Splenomegaly, Leukopenia, Nephropathy, Hemolytic anemia, Autoimmunity	ORPHA:809
Pemphigus Vulgaris	Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation	ORPHA:704
Autoinflammatory-Pancytopenia Syndrome	Hemophagocytosis, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Proteinuria, Panc...	OMIM:619858
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s...	OMIM:300972
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo...	OMIM:611555
Spondyloenchondrodysplasia	Chronic kidney disease, Systemic lupus erythematosus, Juvenile rheumatoid arthritis, Autoimmune t...	ORPHA:1855
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly	OMIM:612653
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Immunodeficiency 66	Sepsis, Defective T cell proliferation	OMIM:618847
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, ...	OMIM:619644
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Leukopenia, Polyuria, Hyperechogenic kidneys, Proteinuria, Anemia, Thromb...	OMIM:613845
Ataxia-Telangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Short stature, Hyp...	OMIM:208900
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Sepsis, Decreased circulating IgA level, Recurrent tonsillitis, Decreased specific pneumococcal a...	ORPHA:183675
Isolated Agammaglobulinemia	Abnormal lymphocyte morphology, Abnormality of neutrophils, Autoimmunity, Anemia, Thrombocytopeni...	ORPHA:229717
Thymoma	Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem...	ORPHA:99867
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Macrothrombocytopenia, Proteinuria, Neutropenia, Thrombocytopenia, Decreased plate...	OMIM:603585
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Iga Nephropathy, Susceptibility To, 1	Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease	OMIM:161950
Hereditary Elliptocytosis	Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom...	ORPHA:288
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Short stature, Recurrent lower respiratory tract infections, Dec...	OMIM:617744
Lipodystrophy, Familial Partial, Type 1	Acute pancreatitis, Hepatomegaly	OMIM:608600
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia	OMIM:222800
Nephrotic Syndrome, Type 15	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis	OMIM:617609
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infect...	ORPHA:66628
Gamma-Heavy Chain Disease	Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, ...	ORPHA:100026
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis	OMIM:145001
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Dyskeratosis Congenita, Digenic	Decreased circulating IgA level, Anemia, Decreased circulating IgG level, Decreased circulating t...	OMIM:620040
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Splenomegaly, Autoimmunity, Pancytopenia, Anemia	OMIM:618398
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Splenomegaly	OMIM:620010
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Bloom Syndrome	Recurrent gastroenteritis, Abnormal proportion of CD8-positive T cells, Abscess, Intrauterine gro...	ORPHA:125
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Nephropathy, Abnormal plat...	ORPHA:906
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infect...	ORPHA:179494
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity	ORPHA:399180
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a...	OMIM:235700
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:615573
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly	OMIM:182900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,...	ORPHA:54251
Schimke Immunoosseous Dysplasia	Nephrotic syndrome, Lymphopenia, Thrombocytopenia, Pancytopenia, Focal segmental glomeruloscleros...	OMIM:242900
Hereditary Orotic Aciduria	Anemia, Impaired T cell function, Recurrent respiratory infections, Splenomegaly	ORPHA:30
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Protoporphyria, Erythropoietic, 1	Hemolytic anemia	OMIM:177000
Neuraminidase Deficiency	Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased...	OMIM:256550
Good Syndrome	Abnormal leukocyte morphology, Thymoma, Anemia, Recurrent urinary tract infections, Mediastinal l...	ORPHA:169105
Rat-Bite Fever	Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar...	ORPHA:31205
Hyperlipoproteinemia, Type Id

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