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 (1164 diseases)

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

Disease	Matching phenotypes	Source
Bullous Pemphigoid	Recurrent infections, Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity	ORPHA:703
Celiac Disease, Susceptibility To, 1	Postnatal growth retardation, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency...	OMIM:212750
Narcolepsy Type 1	Male sexual dysfunction, Female sexual dysfunction	ORPHA:2073
Idiopathic Achalasia	Recurrent aspiration pneumonia	ORPHA:930
Multiple Sclerosis, Susceptibility To	Urinary incontinence, Urinary hesitancy	OMIM:126200
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
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ...	OMIM:617006
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Decreased circulating IgA level, Autoimmunity, Recurrent infect...	OMIM:137100
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemolytic anemia, Splenomegal...	ORPHA:444463
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Abnormal T cell count, Abnormal B cell count, Chronic decreased ...	OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Autoimmune Lymphoproliferative Syndrome	Antineutrophil antibody positivity, Platelet antibody positive, Increased circulating IgG level, ...	OMIM:601859
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity, Recurrent infection of the gastrointestinal tract,...	OMIM:609529
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne...	OMIM:614470
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antiphospholipid antibody positivity, Increased circulating IgA level, Nephrotic syndrome, Autoim...	OMIM:603909
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Abnormality of complement system, Acute ...	ORPHA:2134
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Autoimmune Lymphoproliferative Syndrome, Type Iii	Anticardiolipin IgG antibody positivity, Increased proportion autoreactive unresponsive CD21-/low...	OMIM:615559
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
C1Q Deficiency 1	Recurrent infections, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic tinea infection, Increased circulating IgE level, Hypereosinophilia, Abnormal B cell coun...	OMIM:212050
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen...	OMIM:618982
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormality of humoral immunit...	ORPHA:277
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:607594
Acquired Partial Lipodystrophy	Autoimmunity, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulating complement C3 con...	ORPHA:79087
Immunodeficiency 48	Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ...	OMIM:269840
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ...	OMIM:616126
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Antinuclear antibody positivity, Antiphospho...	OMIM:152700
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Cernunnos-Xlf Deficiency	Lymphopenia, Autoimmunity, Decreased circulating antibody level, Thrombocytopenia, B lymphocytope...	ORPHA:169079
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, Hemolytic an...	OMIM:616744
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 104	Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent...	OMIM:608971
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Masp2 Deficiency	Recurrent pneumonia, Systemic lupus erythematosus	OMIM:613791
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit...	OMIM:607624
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease...	OMIM:619802
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Intestinal lymphangiectasia, Postnat...	OMIM:620632
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Antiphospholipid antib...	ORPHA:90060
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Pos...	OMIM:620210
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Sepsis, Recurrent pneumonia, Aplastic ...	OMIM:615122
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Severe varicella zoster infection, Recurrent otitis media, Decreased circu...	ORPHA:397596
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Hemolytic anemia	OMIM:231900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:169160
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Recurrent in...	OMIM:608184
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Hemolytic anemia	OMIM:612740
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hemolytic anemia, Normochromic anemia	OMIM:245900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr...	OMIM:600802
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia...	ORPHA:572
Complement Component C1R/C1S Deficiency	Autoimmunity, Recurrent bronchitis	OMIM:216950
Cold Agglutinin Disease	Autoimmunity, Hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:56425
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Pediatric Systemic Lupus Erythematosus	Antineutrophil antibody positivity, Nephritis, Abnormality of the urinary system, Microangiopathi...	ORPHA:93552
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Anemia	ORPHA:375
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath...	ORPHA:100024
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Alopecia Areata 1	Autoimmunity	OMIM:104000
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Decreased lymphocyte proliferation in response to mitogen, Opp...	ORPHA:83471
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane...	OMIM:615285
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Selective Igm Deficiency	Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,...	ORPHA:331235
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly, Growth delay	ORPHA:100025
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po...	OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased lymph...	ORPHA:35078
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Chylous Ascites	Pancreatitis	ORPHA:1160
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4...	ORPHA:443811
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
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c...	ORPHA:90035
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Eosinophilopenia	Decreased eosinophil count, Autoimmunity	OMIM:131430
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythe...	OMIM:613779
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Postnatal growth retardation, Intr...	OMIM:609981
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,...	OMIM:150550
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m...	ORPHA:2585
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri...	OMIM:618935
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Systemic lupus erythematosus, Leukopenia, Acute myeloid leukemia, Mo...	OMIM:616871
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto...	OMIM:615010
Systemic Lupus Erythematosus 17	Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukopenia, Decr...	OMIM:301080
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Postnatal growth r...	OMIM:620603
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Increased urine hard...	OMIM:618892
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Purine Nucleoside Phosphorylase Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased lymphocyte pr...	OMIM:613179
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Autoimmunity, Macrocytic anemi...	OMIM:617780
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev...	OMIM:242860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P...	OMIM:612925
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Roifman Syndrome	Recurrent pneumonia, Recurrent otitis media, Postnatal growth retardation, Hepatosplenomegaly, In...	ORPHA:353298
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612926
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Rheumatoid fact...	OMIM:615816
Chilblain Lupus	Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Increased circulating antibody lev...	ORPHA:90280
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis	ORPHA:98827
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Myasthenia Gravis	Rheumatoid arthritis, Glycosuria, Anti-acetylcholine receptor antibody positivity, Systemic lupus...	ORPHA:589
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Recurrent respirat...	OMIM:618116
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia...	OMIM:301110
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ...	ORPHA:436159
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe...	ORPHA:464343
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Heme Oxygenase 1 Deficiency	Nephritis, Hematuria, Proteinuria, Coombs-positive hemolytic anemia, Thrombocytosis, Increased ci...	OMIM:614034
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Recurrent respiratory infections, Hepatitis, Pancytopenia, Spl...	OMIM:300635
Immunodeficiency 32A	Granuloma, Lymphadenitis, BCGitis, Lymphadenopathy, Recurrent infections	OMIM:614893
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion...	ORPHA:90362
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Galactosemia I	Aminoaciduria, Galactosuria, Reduced erythrocyte galactose-1-phosphate uridylyltransferase activi...	OMIM:230400
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hemolytic anemia	ORPHA:108
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep...	ORPHA:65682
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Hemolytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, Ane...	ORPHA:398124
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Hemolytic anemia	OMIM:301015
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent viral infections, Recurrent otitis media, Increased circulating IgE level, Molluscum co...	OMIM:243700
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Nephropathy, Decreased specific anti-polysaccharide antibody leve...	OMIM:301000
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy...	OMIM:612840
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent otitis media, Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropenia, Autoimmun...	OMIM:614700
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, R...	OMIM:613673
Immunodeficiency 7	Severe varicella zoster infection, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoi...	OMIM:615387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, ...	OMIM:215250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612924
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Isothenuria...	OMIM:611590
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decreased hemoglobin conce...	ORPHA:713
Systemic Lupus Erythematosus	Antineutrophil antibody positivity, Pyuria, Leukopenia, Anti-Sm antibody positivity, Hematuria, A...	ORPHA:536
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Immunodeficiency 32B	Recurrent respiratory infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Preeclampsia	Chronic kidney disease, Acute kidney injury, Autoimmunity, Renal insufficiency, Proteinuria, Thro...	ORPHA:275555
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemo...	ORPHA:760
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Reduced circulating complement concentration, Abnormal glomerular mesangium ...	ORPHA:567544
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst	OMIM:167800
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac...	OMIM:233710
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Schimke Immuno-Osseous Dysplasia	Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom...	ORPHA:1830
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglobinuria, Reticul...	OMIM:232800
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac...	OMIM:233690
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased proportion of CD4-positive T cells	OMIM:301045
Nail-Patella-Like Renal Disease	Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Immunodeficiency 31C	Growth delay, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Decreased lymp...	OMIM:614162
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Abnormal immunoglobulin level	ORPHA:90159
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, A...	ORPHA:540
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cutaneo...	OMIM:618282
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume, Pancytopenia, Anti-islet...	OMIM:620044
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti...	ORPHA:69663
Combined Immunodeficiency Due To Crac Channel Dysfunction	Autoimmunity, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:169090
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur...	ORPHA:47612
Immunodeficiency 40	Recurrent pneumonia, Severe varicella zoster infection, Eosinophilic granuloma, Recurrent otitis ...	OMIM:616433
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Short stature, Decre...	OMIM:619750
Reticular Dysgenesis	Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils	ORPHA:33355
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Nephrotic syndrome	OMIM:105200
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis	OMIM:620137
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Hepatic steatosis	OMIM:619386
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Decreased circulating IgA ...	OMIM:620376
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Leuko...	OMIM:615190
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616910
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating compleme...	ORPHA:91139
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hepatic steatosis	OMIM:618805
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopathy, Thrombo...	OMIM:617591
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop...	OMIM:620514
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Hyper-Igd Syndrome	Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased c...	OMIM:260920
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus	ORPHA:90036
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulating interle...	ORPHA:319552
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Follicular Lymphoma	Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Mediastinal lymphadeno...	ORPHA:545
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hemolytic anemia	ORPHA:57
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan...	OMIM:614576
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circ...	OMIM:615934
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Lymphadenopathy, Recurrent pharyngitis, Hepatomegaly	ORPHA:42642
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop...	OMIM:235400
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Renal insuf...	OMIM:603903
Cyclic Neutropenia	Recurrent tonsillitis, Sepsis, Opportunistic infection, Cervical lymphadenopathy, Lymphopenia, Cy...	ORPHA:2686
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Recurrent candida infections, Hypogonadism, Splenomegaly, Hepatomegaly,...	OMIM:201100
Roifman Syndrome	Recurrent pneumonia, Recurrent otitis media, Postnatal growth retardation, Intrauterine growth re...	OMIM:616651
Immunodeficiency 68	Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent ...	OMIM:612260
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Splenomegaly, Increased red cell hemolysis b...	OMIM:194380
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr...	OMIM:235700
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Granuloma, Recurrent Burkhol...	OMIM:306400
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis	ORPHA:676
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Common Variable Immunodeficiency	Lymphopenia, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytopenia, Hem...	ORPHA:1572
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c...	OMIM:613913
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f...	ORPHA:158061
Drug-Induced Lupus Erythematosus	Lupus anticoagulant, Antinuclear antibody positivity, Hematuria, Decreased circulating complement...	ORPHA:231111
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia, Meningitis, Growth delay	OMIM:607115
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia...	OMIM:274150
Mixed Connective Tissue Disease	Nephropathy, Leukopenia, Autoimmunity, Splenomegaly, Hemolytic anemia	ORPHA:809
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:90033
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c...	OMIM:608709
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar...	OMIM:617827
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Bullous Pemphigoid	Recurrent infections, Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity	ORPHA:703
Spondyloenchondrodysplasia	Chronic kidney disease, Granuloma, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, ...	ORPHA:1855
Immunodeficiency 66	Defective T cell proliferation, Sepsis	OMIM:618847
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Proteinuria, Membranoproliferative...	OMIM:619858
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu...	OMIM:300972
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma...	OMIM:603585
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hemolytic anemia	OMIM:609153
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Ataxia-Telangiectasia	Decreased circulating IgG level, Female hypogonadism, Defective B cell differentiation, Lymphopen...	OMIM:208900
Omenn Syndrome	Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hypoplasia of the thymus, Eos...	OMIM:603554
Spherocytosis, Type 4	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:612653
Thymoma	Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ...	ORPHA:99867
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Hemophagocytosis, Severe viral infection, Hepatosplenomegaly, Monocytosis, B...	OMIM:619644
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Bloom Syndrome	Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemi...	ORPHA:125
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Auto...	ORPHA:906
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity	ORPHA:163703
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Splenomegaly	OMIM:620010
Obesity Due To Congenital Leptin Deficiency	Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive helper T cells...	ORPHA:66628
Isolated Agammaglobulinemia	Abnormal lymphocyte morphology, Autoimmunity, Thrombocytopenia, Anemia, Abnormality of neutrophil...	ORPHA:229717
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, ...	ORPHA:100026
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Autoimmunity, Decreased circulating antibody level, Autoimmune hemolytic anem...	OMIM:615952
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis	OMIM:145001
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:79312
Aggressive Systemic Mastocytosis	Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, Leukoc...	ORPHA:98850
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent streptococcal inf...	ORPHA:183675
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ...	OMIM:613845
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Intrauterine growth retardation, Short stature, Recurrent lower ...	OMIM:617744
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Obesity Due To Leptin Receptor Gene Deficiency	Recurrent upper respiratory tract infections, Decreased proportion of CD4-positive helper T cells...	ORPHA:179494
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Recurrent enteroviral infections, Recurrent urinary tract infections, Recu...	OMIM:307200
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function	ORPHA:30
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte...	ORPHA:169105

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