Gene: Wipf1 MGI:2178801

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

WAS/WASL interacting protein family, member 1

Synonyms:

WIP, Waspip, D2Ertd120e

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 Wipf1 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 Wipf1 (2 diseases)
Human diseases predicted to be associated with Wipf1 (1435 diseases)

The table below shows human diseases associated to Wipf1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Wiskott-Aldrich Syndrome 2		Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Wiskott-Aldrich Syndrome		Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906

The table below shows human diseases predicted to be associated to Wipf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De...	OMIM:615559
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c...	OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr...	OMIM:618495
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, D...	OMIM:615952
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,...	OMIM:619164
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di...	OMIM:619281
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmunity, Aut...	OMIM:614470
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, ...	ORPHA:37042
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo...	OMIM:618394
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 40	Hepatomegaly, Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea,...	OMIM:616433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ...	OMIM:613101
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph...	ORPHA:397596
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk...	OMIM:300635
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo...	OMIM:619644
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen...	OMIM:616871
Candidiasis, Familial, 1	Abnormality of the endocrine system, Cutaneous anergy	OMIM:114580
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la...	OMIM:614700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy...	ORPHA:133
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea	OMIM:619398
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Increased...	OMIM:304790
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N...	OMIM:607594
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Autoinflammatory-Pancytopenia Syndrome	Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Int...	OMIM:619858
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ...	OMIM:618969
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease...	OMIM:615592
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Renal insufficiency, Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditi...	ORPHA:139402
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, ...	OMIM:613496
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Rheumatoid factor positive, Tachypnea, Leukopenia, Increased circulating IgG level, Pus...	OMIM:615934
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen...	ORPHA:911
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG le...	ORPHA:98813
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatospl...	OMIM:618935
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Cystic acne...	OMIM:604416
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Osteopenia, Aplastic anemia, Eosinoph...	ORPHA:486
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ...	ORPHA:2688
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ul...	OMIM:616744
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira...	ORPHA:444463
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo...	ORPHA:449395
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ...	ORPHA:99931
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab...	ORPHA:229717
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat...	OMIM:617638
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p...	OMIM:613779
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep...	OMIM:618999
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Skin rash, Reduced natural killer cell activity, Diffuse alveolar ...	OMIM:616050
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Immunodeficiency 67	Increased circulating IgE level, Transient neutropenia, Liver abscess	OMIM:607676
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec...	OMIM:609529
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Diarr...	OMIM:240500
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Pure red cell a...	ORPHA:99867
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract in...	OMIM:616005
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Increased circulating IgE level, Thyroiditis, Delay...	OMIM:618985
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of...	OMIM:619126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Dyspnea, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumo...	OMIM:127550
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Villous atrophy, Tube feeding,...	OMIM:619510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula...	OMIM:602450
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto...	OMIM:260920
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe...	OMIM:615816
Brucellosis	Liver abscess, Rheumatoid factor positive, Bronchitis, Anorexia, Knee osteoarthritis, Leukopenia,...	ORPHA:1304
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi...	ORPHA:2686
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Leukocytosis, Chronic d...	OMIM:617099
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat...	OMIM:612692
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ...	ORPHA:91139
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope...	ORPHA:454831
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopa...	ORPHA:37748
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro...	OMIM:617056
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Anorexia, Dia...	ORPHA:169160
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria...	OMIM:612541
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Anorexia, T lymphocytopenia, ...	OMIM:619381
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:331206
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutrope...	OMIM:617303
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti...	OMIM:606367
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct...	OMIM:601457
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Masp2 Deficiency	Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Lupus anticoag...	ORPHA:93552
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Recurrent pharyng...	ORPHA:42642
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom...	OMIM:150550
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c...	OMIM:613501
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,...	OMIM:209920
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent urinar...	OMIM:620210
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Squamous Cell Carcinoma Of The Esophagus	Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy, Cough	ORPHA:99977
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Glomerulopa...	ORPHA:77297
Cystic Echinococcosis	Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Renal cyst, Pe...	ORPHA:400
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta...	OMIM:620321
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphade...	ORPHA:3392
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Multiple Myeloma	Osteopenia, Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastroin...	ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit...	OMIM:611762
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia, Arthritis	ORPHA:1195
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Increased circulating IgA level, Bilateral cryptorchidism, Pyloric stenosis,...	OMIM:616395
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody...	OMIM:614069
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious...	ORPHA:391487
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia	ORPHA:2582
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve...	ORPHA:343
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi...	ORPHA:810
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc...	OMIM:615190
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome...	OMIM:616414
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A...	OMIM:617780
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hemolytic anemia, Hepatom...	ORPHA:809
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Nausea, Abdo...	ORPHA:2494
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ...	ORPHA:536
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal...	ORPHA:100025
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio...	OMIM:613490
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr...	ORPHA:1572
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Lymphatic Filariasis	Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough...	ORPHA:2035
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Angiostrongyliasis	Projectile vomiting, Stiff neck, Poor appetite, Increased circulating IgA level, Abdominal pain, ...	ORPHA:74
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosis, Chronic diarrhea...	ORPHA:39041
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Bilate...	OMIM:242900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Cutaneous abscess	OMIM:147060
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Antineutrophil antibody posi...	OMIM:301078
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Impaired T cell funct...	OMIM:613179
Lysinuric Protein Intolerance	Osteopenia, Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial...	ORPHA:470
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Pneumonia, Decreased circulating complement factor B concentration...	ORPHA:2298
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating...	ORPHA:83313
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea...	OMIM:617718
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif...	OMIM:241600
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Lymphadenopathy, Hepatosplen...	OMIM:607115
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul...	OMIM:228000
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema...	OMIM:301080
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac...	OMIM:617575
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp...	ORPHA:26790
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, R...	ORPHA:275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, T lymphocytopen...	OMIM:242860
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat...	ORPHA:507
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port...	OMIM:619487
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis...	OMIM:618963
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Abdom...	ORPHA:36412
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop...	ORPHA:79078
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis	OMIM:216950
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Gastrointestin...	ORPHA:90051
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, Ch...	OMIM:614576
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,...	ORPHA:33355
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr...	OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Glo...	ORPHA:91138
Immunodeficiency 19	Recurrent respiratory infections, Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology...	OMIM:615617
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Abdominal pain, Splenomegaly, Antinu...	OMIM:618852
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Postinfectious Vasculitis	Rheumatoid factor positive, Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal inf...	ORPHA:48435
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi...	OMIM:615387
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Respiratory insufficiency, Hematu...	ORPHA:375
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Dyspnea, Leuk...	ORPHA:67
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding diffi...	ORPHA:3260
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Abdominal pain,...	ORPHA:829
Burkitt Lymphoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anorexia, Anti-thyroid peroxidase antibody positiv...	ORPHA:49041
Adenocarcinoma Of The Esophagus	Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ly...	ORPHA:99976
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Lymphadenopathy,...	OMIM:617591
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
5-Oxoprolinase Deficiency	Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-py...	OMIM:260005
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastritis, Increased mean pla...	ORPHA:84064
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Q Fever	Respiratory distress, Rheumatoid factor positive, Anorexia, Abnormality of the liver, Cholecystit...	ORPHA:781
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo...	OMIM:607426
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Diarrhea, Recurrent upper respiratory tract infections, Prot...	OMIM:615758
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Abnormality of the kidney, Chronic pulmon...	ORPHA:1163
Gaucher Disease Type 1	Osteopenia, Anorexia, Osteoarthritis, Leukopenia, Biliary tract obstruction, Hepatomegaly, Increa...	ORPHA:77259
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly	ORPHA:139406
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea...	OMIM:615895
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Uve...	ORPHA:575
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Increased stool alpha1-antitrypsin concentr...	ORPHA:90362
Babesiosis	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly,...	ORPHA:108
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Nodular regene...	ORPHA:247691
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Complement Component 4A Deficiency	Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease...	OMIM:614380
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Hepatomegaly	OMIM:619175
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,...	ORPHA:158061
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Autoimmunity, Crackles, Nonproductive cough, Leukocyto...	ORPHA:2902
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Hyperimidodipeptiduria, Splenomegaly, Asthma, Recurre...	OMIM:170100
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepat...	ORPHA:39812
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Splenomega...	OMIM:276700
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy...	OMIM:181000
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase...	ORPHA:263665
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph...	ORPHA:90291
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Abdominal pain	OMIM:118830
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Necrotizing enterocolitis	OMIM:613860
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port...	OMIM:615688
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Flexion contr...	ORPHA:77260
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Limitation of joint mobili...	ORPHA:69126
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis...	ORPHA:98850
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia	OMIM:615010
Insulin Autoimmune Syndrome	Insulin-resistant diabetes mellitus, Increased circulating antibody level, Hyperinsulinemic hypog...	ORPHA:411593
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Feeding difficult...	OMIM:301006
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t...	ORPHA:227990
Immunodeficiency 31C	Osteopenia, Villous atrophy, Protein-losing enteropathy, Cough, Recurrent vulvovaginal candidiasi...	OMIM:614162
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Joint laxity, Chronic kidney disease, High palate, Glomerulonephritis	ORPHA:2172
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Abnormal sacroiliac joint...	ORPHA:324964
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod...	ORPHA:464370
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar...	ORPHA:544482
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Flexion contr...	OMIM:256040
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st...	OMIM:245590
Hemochromatosis, Type 3	Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Increased circulating IgE level, Hypogonadism	ORPHA:3409
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Portal hypertension, Intrahepatic portal vein sclerosis, Smoo...	ORPHA:64743
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus	OMIM:616622
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In...	ORPHA:98848
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe...	ORPHA:340
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Acute colitis, Abdominal pain, Intestinal perforation, Leukocytosis, Sch...	ORPHA:90038
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe...	ORPHA:227982
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ...	OMIM:613385
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati...	OMIM:232240
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti...	ORPHA:330021
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome...	OMIM:612714
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decrease...	OMIM:601495
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Secretory diarrhea, Hepat...	OMIM:619573
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P...	OMIM:249100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption	OMIM:152800
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal dis...	ORPHA:186
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Abnormality of the thyroid gland, Increased circu...	ORPHA:449432
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo...	OMIM:256300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Nausea and vomiting, Anorexia, Abdominal...	ORPHA:79312
Overlap Myositis	Subluxation of the small joints of the hand, Abnormality of the kidney, Autoimmunity, Antinuclear...	ORPHA:206572
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Tubulointerstitial nephritis, Gastroesophageal reflux, Cough, Glomerulopathy...	ORPHA:183
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neo...	ORPHA:171
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Netherton Syndrome	Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level	OMIM:256500
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abdominal pain, Abnormalit...	ORPHA:54251
Sandhoff Disease	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:796
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Diffuse Alveolar Hemorrhage	Rheumatoid factor positive, Cough, Decreased circulating complement C4 concentration, Irregular s...	ORPHA:90060
Bloom Syndrome	Bronchitis, Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decrea...	ORPHA:125
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antimitochondrial antibody positivity, Antinuc...	ORPHA:562639
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea...	OMIM:614376
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 20	Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent viral...	OMIM:615707
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Abdominal pain, Elbow flexion contracture...	OMIM:616809
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade...	OMIM:609981
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis	OMIM:120100
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ...	OMIM:254900
Hemochromatosis, Type 2A	Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly	OMIM:602390
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, S...	ORPHA:3226
Alpha-Mannosidosis	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Narrow palate, Arthritis, Macroglos...	ORPHA:61
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome,...	OMIM:269920
Legionnaires Disease	Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Abdominal pain, Recurrent pha...	ORPHA:549
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa...	ORPHA:85450
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,...	OMIM:615468
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Malabsorption, Recurrent infection of the gastroi...	OMIM:137100
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir...	ORPHA:2590
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal respiratory distres...	ORPHA:221139
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ...	ORPHA:53
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatos...	ORPHA:79259
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased response to growth hormo...	OMIM:615577
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Recurrent fractures, Hepatomegaly	ORPHA:417
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Mala...	ORPHA:3452
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
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