Gene: Fasl MGI:99255

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Fas ligand

Synonyms:

Fasl, CD95L, CD178, APT1LG1, Tnfsf6, Fas-L

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 Fasl 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 Fasl (3 diseases)
Human diseases predicted to be associated with Fasl (1853 diseases)

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

Disease	Matching phenotypes	Source
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, L...	ORPHA:3261
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980

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

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Lympho...	OMIM:618495
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
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
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Activated Pi3K-Delta Syndrome	Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph...	ORPHA:397596
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, R...	OMIM:619632
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Desquamative inte...	OMIM:615952
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal imm...	ORPHA:98813
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmunity, Fol...	OMIM:614470
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged t...	OMIM:616005
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Increas...	OMIM:212050
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage...	OMIM:613496
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
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 With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Autoimmunity, Decreased circu...	OMIM:609529
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Antiphospholipid antibody positivity, Rheumatoid fact...	OMIM:615934
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Dyspnea, ...	ORPHA:60026
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro...	ORPHA:567544
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Lymphoma, Increased circulating beta-2-microglobulin level, Multiple myeloma, Cryoglobulinemia, M...	ORPHA:209004
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, L...	ORPHA:3261
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anem...	ORPHA:37042
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap...	OMIM:300635
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo...	OMIM:618394
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Lymphopenia, Psoriasiform dermatitis, Atrophic gastrit...	OMIM:616100
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc...	OMIM:616433
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
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
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula...	ORPHA:449400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Abnormal T cell count, Abnormal B cell count, Autoimmu...	ORPHA:331206
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Increased circulating IgE level...	OMIM:243700
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur...	OMIM:614493
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Thymoma	Myositis, Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Anti-acetylc...	ORPHA:99867
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneum...	ORPHA:169160
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Stomatitis, Autoimmunity, Autoimmune thr...	OMIM:613011
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Immunodeficiency 50	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp...	OMIM:300988
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Autoimmunity, Retroperitoneal fibrosis, Increased...	ORPHA:449432
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Oral ulcer, Chronic mucocutaneous candidiasis, Lym...	OMIM:608971
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Complement Component 4A Deficiency	Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease...	OMIM:614380
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat...	ORPHA:83313
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy...	ORPHA:133
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+...	OMIM:606367
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ...	ORPHA:91139
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Increased circulating I...	OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, B-cell lymphoma, ...	OMIM:102700
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane...	OMIM:147060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease...	OMIM:619510
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hep...	OMIM:603553
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe...	OMIM:615816
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Pruritus, Splenomegaly, L...	ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia	OMIM:616069
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Dyspnea, Angioedema, Myocarditis, Hepatitis, Erythroderma, Lymp...	ORPHA:139402
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu...	OMIM:613179
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level	ORPHA:89843
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Immunodeficiency 22	Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infectio...	OMIM:615758
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter...	OMIM:193670
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Arthritis, Infectious encephalitis	ORPHA:42642
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Pedal edema, Increased circu...	ORPHA:449395
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin...	OMIM:614379
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k...	OMIM:616050
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Meningiti...	ORPHA:292
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche...	OMIM:619126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic...	OMIM:242860
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hyper...	ORPHA:2902
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Edema, Pedal edema, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Increased circulating...	ORPHA:139507
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Autoimmunity, Portal hypertension, Increased circulatin...	ORPHA:186
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis	OMIM:216950
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu...	OMIM:617585
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele...	ORPHA:454836
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Recurrent respiratory infections, Recurrent skin infections, Splenomeg...	OMIM:620210
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Meningitis, Acute demyelinating polyneuropa...	ORPHA:448237
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane...	OMIM:617780
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Meningitis, Increased circulating I...	ORPHA:1163
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Dehydration, Decreased c...	ORPHA:33355
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased circulating IgG level, Leukopenia, Hypoalbuminemia, Hypotriglyceridemia...	ORPHA:2298
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce...	OMIM:618935
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti...	OMIM:127550
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis...	OMIM:615207
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertrigly...	OMIM:267700
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ...	ORPHA:99931
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Brucellosis	Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Increased circulating...	ORPHA:1304
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent...	ORPHA:343
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod...	ORPHA:634
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu...	OMIM:615214
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s...	OMIM:618999
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Subcorneal Pustular Dermatosis	Autoimmunity, Pruritus, Pustule, Systemic lupus erythematosus, Increased circulating antibody lev...	ORPHA:48377
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym...	ORPHA:79087
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Symmetric peripheral demyelination, Demyelinating motor neuropa...	ORPHA:206594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin...	OMIM:256500
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Tempi Syndrome	Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ...	ORPHA:284227
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Immunodeficiency, Common Variable, 13	Pancytopenia, Polyhydramnios, Decreased circulating antibody level, Acute lymphoblastic leukemia,...	OMIM:616873
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ...	ORPHA:829
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Systemic Lupus Erythematosus	Lupus nephritis, Oral ulcer, Leukopenia, Decreased circulating complement C4 concentration, Seros...	ORPHA:536
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Autoimmunity, Increased circulating IgG4 level, Increased circulating ...	ORPHA:79078
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatitis...	ORPHA:549
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Primary Intestinal Lymphangiectasia	Lymphopenia, Generalized edema, Peritoneal effusion, Edema, Pericardial effusion, Decreased circu...	ORPHA:90362
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis	OMIM:617900
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea...	OMIM:615577
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Hypotrichosis Simplex Of The Scalp	Pruritus, Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Decr...	OMIM:616740
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
C1Q Deficiency 3	Discoid lupus rash, Recurrent bacterial meningitis	OMIM:620322
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Hyperamm...	ORPHA:1194
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ...	OMIM:617744
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytope...	OMIM:617303
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,...	ORPHA:781
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Meningitis	OMIM:613002
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Pediatric Systemic Lupus Erythematosus	Myositis, Oral ulcer, Leukopenia, Decreased circulating complement C4 concentration, Lupus antico...	ORPHA:93552
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni...	OMIM:618116
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Splenomegaly, Leukocytosis, Lympho...	ORPHA:39041
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Paraparetic Variant Of Guillain-Barré Syndrome	Recurrent acute respiratory tract infection, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen...	OMIM:616871
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Periorbital edema, Splenomegaly, Thrombocytopenia, ...	OMIM:617591
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Thrombocytopenia, Asthma, Recurrent pne...	OMIM:170100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Edema, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjun...	OMIM:603552
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv...	OMIM:620321
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter	ORPHA:3409
Sneddon Syndrome	Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia	OMIM:182410
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au...	ORPHA:229717
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Increased circulating IgE level, Lympho...	ORPHA:2314
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Thrombocytopenia 1	Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:100026
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Circulating immu...	ORPHA:91138
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Interstitial Lung Disease 2	Dyspnea, Pulmonary arterial hypertension, Alveolar cell carcinoma, Increased circulating antibody...	OMIM:178500
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an...	OMIM:616414
Variant Abeta2M Amyloidosis	Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Hepatic amyloidosis, R...	ORPHA:314652
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Typhoid	Skin rash, Hepatomegaly, Infectious encephalitis, Splenomegaly	ORPHA:99745
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat...	ORPHA:90060
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytop...	ORPHA:391487
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi...	OMIM:615387
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Dysuria,...	OMIM:618131
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e...	ORPHA:779
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad...	ORPHA:381
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244

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