Gene: Fas MGI:95484

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Fas (TNF receptor superfamily member 6)

Synonyms:

Tnfrsf6, CD95, APO-1, TNFR6

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 Fas 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 Fas (4 diseases)
Human diseases predicted to be associated with Fas (2353 diseases)

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

Disease	Matching phenotypes	Source
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,...	ORPHA:3261
Behçet Disease	Ataxia, Pancreatitis, Myocardial infarction, Cataract, Abnormal myocardium morphology, Increased ...	ORPHA:117
Vogt-Koyanagi-Harada Disease	Sensorineural hearing impairment, Abnormal eyebrow morphology, Cognitive impairment, Poliosis, Ab...	ORPHA:3437

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

Disease	Matching phenotypes	Source
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre...	OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,...	OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-...	OMIM:615559
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic...	OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Colitis, Decreased specific pneumococcal antibody level, Podocyte foot proces...	OMIM:617006
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
C1Q Deficiency	Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s...	OMIM:613652
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level...	OMIM:608106
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ...	OMIM:247800
Complement Component 3 Deficiency, Autosomal Recessive	Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Decreased serum compleme...	OMIM:613779
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ...	OMIM:615897
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel...	OMIM:618982
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG level, ...	OMIM:618495
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M...	OMIM:153600
Immunodeficiency 34	Recurrent mycobacterial infections, Severe recurrent varicella	OMIM:300645
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Rheumatoid factor positive, Thrombocytopenia, Gastrointestinal hemorrhage, Nephroti...	OMIM:603909
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level	OMIM:242870
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency 25	Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Complete or nea...	OMIM:610163
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Component 4A Deficiency	Systemic lupus erythematosus, Decreased serum complement C4, Vasculitis, Purpura, Glomerulonephri...	OMIM:614380
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury...	OMIM:615008
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise...	OMIM:256020
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Nephrotic Syndrome, Type 23	Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero...	OMIM:619201
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency 40	Lymphopenia	OMIM:616433
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr...	OMIM:611521
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits	ORPHA:69063
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi...	OMIM:619375
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut...	OMIM:614470
Mannose-Binding Lectin Deficiency	Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr...	OMIM:614372
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren...	OMIM:605258
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-...	OMIM:615861
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology	OMIM:609529
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Hemophagocytosis, Hepatic failure, Aplastic anemia, Pancytopenia, Lymphadenopathy, ...	OMIM:308240
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:613494
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Decrease...	OMIM:613496
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid factor positive,...	ORPHA:3261
Autoimmune Hepatitis	Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Gastrointesti...	ORPHA:2137
Immunodeficiency 105	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hepatosplenomegaly...	OMIM:619924
Nephrotic Syndrome, Type 15	Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ...	OMIM:617609
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level...	ORPHA:169154
Lipoprotein Glomerulopathy	Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria	OMIM:611771
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash...	OMIM:618048
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium...	ORPHA:567544
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen...	ORPHA:329918
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Recurrent infections	OMIM:606445
Immunodeficiency 48	Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o...	OMIM:269840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Pulmonary ...	ORPHA:277
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
C3 Glomerulopathy 3	Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease	OMIM:614809
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh...	OMIM:209950
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ...	ORPHA:449395
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ...	OMIM:312863
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro...	OMIM:161900
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Hepatomeg...	OMIM:617388
Immunodeficiency 18	Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,...	OMIM:613501
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Eczema, Decreased prealbumin level, Vomiting, Anti-thyroid peroxidase antibody positiv...	ORPHA:37042
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Sepsis, Recurrent opportunistic infections, Recurrent Haemophilus influenzae infect...	ORPHA:276
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Rec...	OMIM:240500
Immunodeficiency 95	Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections...	OMIM:619773
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Persistent CMV viremia, Auto...	OMIM:300853
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Recurrent fungal infections, Chronic oral candidiasis, Hepatomeg...	OMIM:300400
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Vasculitis, Arthritis, Increased circulating...	ORPHA:37748
Simple Cryoglobulinemia	Spontaneous pain sensation, Stroke, Complement deficiency, Monoclonal elevation of circulating Ig...	ORPHA:91139
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro...	OMIM:601894
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym...	OMIM:247630
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio...	OMIM:618987
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega...	OMIM:607594
Tubulointerstitial Nephritis With Uveitis	Panuveitis, Reversible renal failure, Anterior uveitis, Non-caseating epithelioid cell granulomat...	OMIM:607665
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Eczema, Foam cells, Decreased proportion of CD4+CD25+ regulatory T cells, Monoc...	OMIM:619802
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri...	OMIM:614817
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro...	OMIM:618178
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 21	Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St...	OMIM:618594
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer...	OMIM:137950
Immunodeficiency, Common Variable, 8, With Autoimmunity	B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Type I diabetes ...	OMIM:614700
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:301028
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:607271
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Decreased proportion of CD4+CD...	OMIM:606367
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ...	OMIM:616005
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Nephrotic Syndrome, Type 4	Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros...	OMIM:256370
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L...	OMIM:615285
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, Follicular hyp...	OMIM:615934
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Focal Segmental Glomerulosclerosis 2	Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag...	OMIM:603965
Multiple Myeloma	Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Nephropathy,...	ORPHA:29073
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Brucellosis	Elevated circulating C-reactive protein concentration, Hepatomegaly, Rheumatoid factor positive, ...	ORPHA:1304
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Nephrotic syndrome, C3 nephritic factor positivity, Glomerular subendothe...	ORPHA:54370
Immunodeficiency 52	Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen...	OMIM:617514
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Lupus Erythematosus Tumidus	Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity...	ORPHA:90283
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo...	OMIM:616892
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Nephrotic Syndrome, Type 17	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi...	OMIM:618176
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,...	OMIM:613500
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Systemic lupus erythematosus, Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hem...	ORPHA:444463
Pgm3-Cdg	High palate, Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Rheumat...	ORPHA:443811
Bare Lymphocyte Syndrome, Type Ii	Recurrent protozoan infections, Colitis, Recurrent fungal infections, Viral hepatitis, Recurrent ...	OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto...	OMIM:102700
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Nephrotic Syndrome, Type 14	Sensorineural hearing impairment, Adrenal insufficiency, Ataxia, Nephrotic syndrome, Lymphopenia,...	OMIM:617575
Iga Nephropathy, Susceptibility To, 2	Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease	OMIM:613944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell c...	ORPHA:331206
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Antinu...	OMIM:152700
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Omenn Syndrome	Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal ly...	ORPHA:39041
Immunodeficiency 61	Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr...	OMIM:300310
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Pulmonary hemorrhage, Tachypnea, Arthritis, Cough, Decreased DLCO, Cr...	OMIM:616414
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Q Fever	Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuria, Myocarditis, Antimi...	ORPHA:781
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Autoimmunity, Decreased circulating antibody l...	ORPHA:169079
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Stroke, Impaired T cell function, Abnormal proportion of naive CD4 T cells, Microdo...	ORPHA:1830
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ...	ORPHA:2442
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased...	OMIM:308230
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ...	OMIM:613493
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abno...	ORPHA:449400
Hypocomplementemic Urticarial Vasculitis	Ataxia, Hepatomegaly, Complement deficiency, Diarrhea, Hematuria, Uveitis, Proteinuria, Inflammat...	ORPHA:36412
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity	ORPHA:60026
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Lymphoproliferative Syndrome 2	EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophag...	OMIM:615122
Immunodeficiency 12	Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg...	OMIM:613101
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat...	OMIM:212050
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria	ORPHA:419
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic...	OMIM:300755
Mantle Cell Lymphoma	B-cell lymphoma, Weight loss, Lymphadenopathy, Splenomegaly	ORPHA:52416
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Coombs-positive hemolytic anemia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoim...	OMIM:304790
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:617241
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis	OMIM:614650
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro...	ORPHA:83471
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Joint swelling, Increased circulating IgA level, Neutrophilia, Skin rash, Leukocytosis, Elevated ...	OMIM:617099
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph...	OMIM:608709
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:616022
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi...	OMIM:613092
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Boutonneuse Fever	Petechiae, Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Diarrhea, In...	ORPHA:83313
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus	OMIM:614420
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,...	OMIM:610725
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,...	OMIM:301082
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Lymphadeno...	ORPHA:42642
Focal Segmental Glomerulosclerosis 6	Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo...	OMIM:614131
Iga Nephropathy, Susceptibility To, 1	Nephritis, Hematuria, IgA deposition in the glomerulus, Purpura, Proteinuria, Stage 5 chronic kid...	OMIM:161950
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti...	ORPHA:911
Primary Sjögren Syndrome	Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Polyarticular art...	ORPHA:289390
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenome...	OMIM:301078
Anti-Glomerular Basement Membrane Disease	Hematuria, Vasculitis, Arthritis, Purpura, Autoimmunity, Renal insufficiency, Proteinuria, Glomer...	ORPHA:375
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc...	OMIM:613860
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis	OMIM:249660
Immunodeficiency 44	Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati...	OMIM:616636
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism	OMIM:183350
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio...	OMIM:619374
Cryoglobulinemic Vasculitis	Petechiae, Viral hepatitis, Circulating immune complexes, Hepatomegaly, Splenomegaly, Cryoglobuli...	ORPHA:91138
Kimura Disease	Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Colitis, Hepatomegaly, Cholestatic liver disease, Hemophagocytosis, Spl...	ORPHA:540
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:613913
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency	OMIM:607832
Systemic-Onset Juvenile Idiopathic Arthritis	Joint swelling, Elevated circulating C-reactive protein concentration, Hepatomegaly, Skin rash, S...	ORPHA:85414
Adult-Onset Still Disease	Joint swelling, Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, S...	ORPHA:829
Idiopathic Pulmonary Hemosiderosis	Smooth muscle antibody positivity, Antineutrophil antibody positivity, Hepatosplenomegaly, Rheuma...	ORPHA:99931
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Rheumatoid factor ...	ORPHA:48435
Iga Nephropathy, Susceptibility To, 3	Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr...	OMIM:616818
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,...	OMIM:608184
Nephrotic Syndrome, Type 9	Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr...	OMIM:615573
Immunodeficiency 104	Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid...	OMIM:608971
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn...	OMIM:609129
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Enlarged lacrimal glands, Enlargement of parotid gland, Lymphadenopathy, Keratoconj...	ORPHA:79078
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 37	Colitis, Decreased circulating antibody level, Recurrent infections, Infectious encephalitis, Dec...	OMIM:616098
Mixed Connective Tissue Disease	Gastritis, Hepatomegaly, Myocarditis, Gastrointestinal hemorrhage, Pericarditis, Prolonged bleedi...	ORPHA:809
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu...	OMIM:600995
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati...	ORPHA:572
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria	ORPHA:2613
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612925
Immunodeficiency 20	Recurrent oral herpes, Severe varicella zoster infection, Recurrent sinusitis, BCGitis, Recurrent...	OMIM:615707
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Enlarged kidney, Thrombocytopenia, Proteinuria, Bone marrow hypocellularity, Nephro...	OMIM:617303
Cirrhosis, Familial	Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis	OMIM:118900
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re...	OMIM:307200
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Anemia, Stage 5...	OMIM:603278
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Lymphoproliferative Syndrome 1	Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope...	OMIM:613011
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki...	OMIM:612926
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulating antibody level, Recu...	OMIM:618261
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Thrombocytopenic Purpura, Autoimmune	Platelet antibody positive	OMIM:188030
Nephrotic Syndrome, Type 8	Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Thin glomer...	OMIM:615244
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Anemia, Dec...	ORPHA:231111
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ...	ORPHA:100024
Igg4-Related Submandibular Gland Disease	Facial edema, Complement deficiency, Enlarged lacrimal glands, Enlargement of parotid gland, Peri...	ORPHA:449432
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Type I diab...	ORPHA:171
Insulin Autoimmune Syndrome	Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti...	ORPHA:411593
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen...	OMIM:619846
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Igg4-Related Thyroid Disease	Abnormality of the pituitary gland, Graves disease, Hypocalcemia, Euthyroid goiter, Sialadenitis,...	ORPHA:64744
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:859
Nephrotic Syndrome, Type 11	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo...	OMIM:616730
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin le...	ORPHA:90159
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Acquired Partial Lipodystrophy	Lymphocytosis, Decreased serum complement C3, Autoimmunity, Proteinuria, Glomerulopathy, Hearing ...	ORPHA:79087
Immunodeficiency 91 And Hyperinflammation	Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopa...	OMIM:619644
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Infectious en...	ORPHA:3386
Drug Reaction With Eosinophilia And Systemic Symptoms	Nephrotic syndrome, Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Inter...	ORPHA:139402
Selective Igm Deficiency	Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma...	ORPHA:331235
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex...	OMIM:602450
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,...	OMIM:310468
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d...	ORPHA:158048
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu...	ORPHA:2298
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections	OMIM:614868
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Eczema, Diarrhea, B lymphocytopenia, Type I diabetes mellitus, Abnormality of the endocrine syste...	ORPHA:391487
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly...	ORPHA:507
Immunodeficiency 23	Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Lymphopenia, Vasculitis ...	OMIM:615816
Subacute Inflammatory Demyelinating Polyneuropathy	Motor conduction block, Decreased nerve conduction velocity, Leukocytosis, Demyelinating motor ne...	ORPHA:206594
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt...	OMIM:619281
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex	OMIM:601071
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Panhypogammaglobulinemia, T lymphoc...	OMIM:601457
Al Amyloidosis	Autonomic erectile dysfunction, Hepatomegaly, Elevated circulating alkaline phosphatase concentra...	ORPHA:85443
Tularemia	Increased circulating antibody level, Leukocytosis, Otitis media, Anemia, Cervical lymphadenopath...	ORPHA:3392
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase...	ORPHA:169160
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Stroke, Elevated circulating C-reactive protein concentration, Hepatomegaly, Eczema, Type I diabe...	OMIM:615688
Systemic Sclerosis	Anti-centromere antibody positivity, Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnorma...	ORPHA:90291
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we...	OMIM:308990
Legionnaires Disease	Pancreatitis, Lymphopenia, Splenomegaly, Sepsis, Endocarditis, Hematuria, Myocarditis, Hepatitis,...	ORPHA:549
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre...	ORPHA:470
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Thymoma	Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem...	ORPHA:99867
Immunodeficiency 84	Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV...	OMIM:619437
Nephrotic Syndrome, Type 16	Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Autoinflammatory-Pancytopenia Syndrome	Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glomerulonep...	OMIM:619858
Acquired Ichthyosis	Recurrent skin infections, Erythema, Dry skin, Hyperkeratosis, Autoimmunity, Renal insufficiency,...	ORPHA:454
Muckle-Wells Syndrome	Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Camptodactyly of finger, Nephropathy, ...	ORPHA:575
Cystinuria	Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn...	OMIM:220100
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear antineutrophil anti...	OMIM:618394
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia	OMIM:608898
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Severe varicella zoster in...	OMIM:618986
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Pulmonary embolism, Abnormal glo...	ORPHA:567548
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l...	OMIM:618944
Complement Component C1S Deficiency	Systemic lupus erythematosus, Hashimoto thyroiditis	OMIM:613783
Igg4-Related Ophthalmic Disease	Keratitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Enlarged lacrimal...	ORPHA:449563
Juvenile Idiopathic Arthritis	Joint swelling, Malabsorption, Hepatomegaly, Joint dislocation, Skin rash, Splenomegaly, Mediasti...	ORPHA:92
Hyper-Igd Syndrome	Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Neutrophilia, Splenomegaly,...	OMIM:260920
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Hepatomegaly, Peritonitis, Diarrhea, Erythema, Vasculitis, Arthr...	ORPHA:343
Spondyloenchondrodysplasia With Immune Dysregulation	Joint swelling, Neutropenia, Lymphopenia, Systemic lupus erythematosus, Raynaud phenomenon, Juven...	OMIM:607944
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Hereditary Renal Hypouricemia	Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno...	ORPHA:94088
Genetic Steroid-Resistant Nephrotic Syndrome	Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero...	ORPHA:656
Waldenström Macroglobulinemia	Ataxia, Hepatomegaly, Stroke, Diarrhea, Gastrointestinal hemorrhage, Vertigo, Leukemia, Abnormal ...	ORPHA:33226
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete...	OMIM:601331
Gaisböck Syndrome	Angina pectoris, Stroke, Gout, Increased circulating renin level, Myocardial infarction, Hyperuri...	ORPHA:90041
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy, Esophageal carcinoma, Barrett esophagus	ORPHA:99976
X-Linked Agammaglobulinemia	Sensorineural hearing impairment, Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Abno...	ORPHA:47
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Lymphopenia, Sple...	OMIM:616100
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Eosinophilic Granulomatosis With Polyangiitis	Hematuria, Myocarditis, Myocardial infarction, Increased inflammatory response, Proteinuria, Tran...	ORPHA:183
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Decreased serum complement C4, Diarrhea, Hematuria, Vomiting, Proteinuria, Mi...	ORPHA:93552
Membranoproliferative Glomerulonephritis, X-Linked	Cardiac shunt, Membranoproliferative glomerulonephritis	OMIM:305800
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy...	OMIM:607624
Chilblain Lupus	Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe...	ORPHA:90280
Wiskott-Aldrich Syndrome	Keratitis, Otitis media, Eczema, Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolo...	ORPHA:906
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent fungal infections, Eosinophilia, Decreased circulating total IgM, Disseminated molluscu...	OMIM:243700
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Decreased glomerular filtration rate, Renal tubular atrophy, Nephropathy, Gout, Renal ...	OMIM:162000
Neuromyelitis Optica Spectrum Disorder	Optic neuritis, Myelitis, Autoimmune antibody positivity, Functional abnormality of the bladder, ...	ORPHA:71211
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Galloway-Mowat Syndrome 7	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in...	OMIM:618348
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,...	OMIM:618852
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Hemophagocytic Lymphohistiocytosis, Familial, 2	CNS demyelination, Hepatomegaly, Hemophagocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, L...	OMIM:603553
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency 76	Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ly...	OMIM:619164
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat...	ORPHA:275
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ...	OMIM:613179
Alport Syndrome 3, Autosomal Dominant	Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme...	OMIM:104200
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy	OMIM:602114
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media	OMIM:616941
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Elevated circulating C-reactive protein concentration, Vasculitis in the skin, Diarrhe...	OMIM:619381
Carcinoma Of Esophagus	Esophageal neoplasm, Barrett esophagus, Obesity, Weight loss, Lymphadenopathy	ORPHA:70482
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Iga Pemphigus	Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmun...	ORPHA:555905
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Hepatomegal...	ORPHA:465508
Crimean-Congo Hemorrhagic Fever	Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hepatomegaly, Hemothorax, Diarrhea, He...	ORPHA:99827
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Progressive joint destruction, Elevated circulating C-reactive protein concentrat...	ORPHA:85435
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat...	ORPHA:66661
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Masp2 Deficiency	Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr...	ORPHA:183675
Galloway-Mowat Syndrome 4	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Macrotia, Stage 5 chronic kidney di...	OMIM:617730
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf...	OMIM:616515
Wiskott-Aldrich Syndrome	Melena, Eczema, Diarrhea, Decreased mean platelet volume, Large vessel vasculitis, Prolonged blee...	OMIM:301000
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Complement Factor I Deficiency	Decreased serum complement factor H, Decreased serum complement factor B, Decreased serum complem...	OMIM:610984
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Vexas Syndrome	Chondritis of pinna, Inflammatory abnormality of the skin, Nasal chondritis, Autoimmune antibody ...	OMIM:301054
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi...	ORPHA:70593
Cystic Echinococcosis	Increased circulating antibody level, Abnormality of the testis size, Cholestatic liver disease, ...	ORPHA:400
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent fungal infections, Hepatomegaly, Splenomegaly, Recu...	ORPHA:169090
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Microscopic Polyangiitis	Pancreatitis, Diarrhea, Hematuria, Uveitis, Increased inflammatory response, Gastrointestinal hem...	ORPHA:727
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positivity, Cirrhosi...	ORPHA:228426
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine...	OMIM:614196
Non-Epidermolytic Palmoplantar Keratoderma	Skin ulcer, Erythema	ORPHA:2337
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Eczema, Delayed puberty, Increased circulating IgE level, Decreased serum insulin...	OMIM:618985
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l...	ORPHA:231154
Nodular Lymphocyte Predominant Hodgkin Lymphoma	B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Weight loss, Lymphadenop...	ORPHA:86893
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Generalized edema, Decreased circulating IgA level, Decreased circulating to...	ORPHA:90362
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Galactosemia I	Increased level of galactitol in urine, Decreased liver function, Hepatomegaly, Aminoaciduria, Ci...	OMIM:230400
Prolidase Deficiency	High palate, Increased circulating antibody level, Systemic lupus erythematosus, Hepatomegaly, Di...	OMIM:170100
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Hepatomegaly, Coombs-positive hemolytic anemia...	OMIM:614034
Nephronophthisis 20	Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:617271
Lymphangiectasia, Intestinal	Malabsorption, Decreased circulating IgG level, Lymphopenia, Pedal edema, Edema, Intestinal lymph...	OMIM:152800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Cholestatic liver disease, Smooth muscle antib...	ORPHA:562639
Pauci-Immune Glomerulonephritis	Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Arteritis, Macro...	ORPHA:93126
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Immunodeficiency 7	Lymphadenopathy, Autoimmunity	OMIM:615387
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici...	OMIM:254900
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	ORPHA:158061
Proteinuria, Chronic Benign	Renal insufficiency, Albuminuria, Proteinuria	OMIM:618884
Scrub Typhus	Skin rash, Splenomegaly, Myocarditis, Anterior uveitis, Meningitis, Infectious encephalitis, Rena...	ORPHA:83317
Fechtner syndrome	Neutrophil inclusion bodies, Nephritis, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant...	OMIM:153640
Marfanoid Habitus With Microcephaly And Glomerulonephritis	Glomerulonephritis, Renal insufficiency	OMIM:248760
Spondyloenchondrodysplasia	Hematuria, Chorea, Anti-dsDNA antibody positivity, Proteinuria, Pneumonia, Pancytopenia, Systemic...	ORPHA:1855
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa, Decreased pro...	OMIM:233600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Leptospirosis	Optic neuritis, Hepatomegaly, Skin rash, Pulmonary hemorrhage, Hyperproteinemia, Arrhythmia, Reti...	ORPHA:509
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thrombocy...	OMIM:603552
Cowden Syndrome 1	Hydrocele testis, High palate, Narrow mouth, Lymphopenia, Hyperthyroidism, Ovarian cyst, Hamartom...	OMIM:158350
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Decreased circulati...	OMIM:619652
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly	ORPHA:228312
Aspergillosis	Keratitis, Unusual CNS infection, Osteomyelitis, Invasive pulmonary aspergillosis, Sinusitis, Abn...	ORPHA:1163
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie...	OMIM:245900
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Galloway-Mowat Syndrome 2, X-Linked	Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch...	OMIM:301006
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Elevated circulating C-reactive protein concen...	OMIM:256040
Galloway-Mowat Syndrome 8	Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein...	OMIM:618349
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Heparan sulfate excretion in urine, Enlarged kidney, Thrombocytopenia, Proteinuria, Bone marrow h...	ORPHA:505248
Fibronectin Glomerulopathy	Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Hypoalbuminemi...	ORPHA:84090
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Hypoproteinemia, Diarrhea, Vomiting, Shock, Hypoalbuminemia, Ede...	OMIM:600351
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Muckle-Wells Syndrome	Leukocytosis, Maculopapular exanthema, Renal insufficiency, Recurrent aphthous stomatitis, Renal ...	OMIM:191900
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Short philt...	OMIM:613385
Zika Virus Disease	Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Infectious encephalitis, Inc...	ORPHA:448237
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Immunodeficiency 16	Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Immunodeficiency 70	Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec...	OMIM:618969
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Immune Deficiency Disease	Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections	OMIM:242850
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen...	OMIM:619263
Galloway-Mowat Syndrome 10	Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne...	OMIM:619609
Preeclampsia/Eclampsia 1	Thrombocytopenia, Proteinuria	OMIM:189800
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Vascu...	ORPHA:1572
Complement Factor H Deficiency	Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel...	OMIM:609814
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Inflammatory a...	OMIM:609628
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffic...	OMIM:256300
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Sepsis, Abnormality of the lymphatic system, Abnormal lymphoc...	ORPHA:229717
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Rheumatoid factor po...	ORPHA:49041
Wiskott-Aldrich Syndrome, Autosomal Dominant	Otitis media, Eczema, Diarrhea, Decreased mean platelet volume, Pneumonia, Large vessel vasculiti...	OMIM:600903
Bardet-Biedl Syndrome 10	Abnormality of the kidney, Renal cyst, Renal insufficiency	OMIM:615987
Autoinflammation, Immune Dysregulation, And Eosinophilia	Nephrotic syndrome, Atopic dermatitis, Hepatosplenomegaly, Eosinophilia, Membranous nephropathy, ...	OMIM:618999
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Nephrotic syndrome, Continuous spike and waves during slow sleep, Hypospadias, EEG with o...	OMIM:619428
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Amyloidosis, Familial Visceral	Nephrotic syndrome, Skin rash, Splenomegaly, Nephropathy, Hematuria, Proteinuria	OMIM:105200
Immunodeficiency 17	Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, T lymphocytopenia, Decreased...	OMIM:615607
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Farber Lipogranulomatosis	Joint swelling, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Ulnar deviation of the...	OMIM:228000
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Primary Biliary Cholangitis	Abnormality of the thyroid gland, Increased circulating IgA level, Abnormal circulating lipid con...	ORPHA:186
Extracranial Carotid Artery Aneurysm	Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ...	ORPHA:494424
Avian Influenza	Lymphopenia, Leukopenia, Sepsis, Myelitis, Increased circulating lactate dehydrogenase concentrat...	ORPHA:454836
Crigler-Najjar Syndrome	Jaundice, Infectious encephalitis, Abnormality of the liver	ORPHA:205
Immunodeficiency 46	Chronic oral candidiasis, Decreased circulating antibody level, Intermittent thrombocytopenia, Ch...	OMIM:616740
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Truncal obesity, Large for gestational age, Enlarged tonsils	ORPHA:293964
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Malabsorption, Lymphopenia, Hypoproteinemia, Abnormal bleeding, Lymphedema, Decreased circulating...	ORPHA:1116
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,...	OMIM:133180
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Systemic Lupus Erythematosus 17	Optic neuritis, Lymphopenia, Systemic lupus erythematosus, Raynaud phenomenon, Decreased serum co...	OMIM:301080
Typhoid	Hepatomegaly, Infectious encephalitis, Skin rash, Splenomegaly	ORPHA:99745
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Congenital Enterovirus Infection	Leukocytosis, Skin rash, Hepatic failure, Leukopenia, Sepsis, Myocarditis, Abnormal macrophage mo...	ORPHA:292
Takayasu Arteritis	Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Hyperhidrosis, Arthritis, Vasculit...	ORPHA:3287
Immunodeficiency 75	Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo...	OMIM:619126
Omenn Syndrome	Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym...	OMIM:603554
Nephrotic Syndrome, Type 22	Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m...	OMIM:619155
Autoimmune Polyendocrinopathy Type 3	Thymoma, Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Aut...	ORPHA:227982
Preeclampsia	Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat...	ORPHA:275555
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Reticular Dysgenesis	Malabsorption, Skin rash, Leukopenia, Diarrhea, Dehydration, Chronic otitis media, Abnormality of...	ORPHA:33355
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Diarrh...	ORPHA:33110
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Severe infection, Antineutrophil antibody p...	ORPHA:464370
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th...	OMIM:617780
Bacterial Toxic-Shock Syndrome	Sepsis, Abscess, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, Increased circ...	ORPHA:36234
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, ...	OMIM:618108
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Proteinuria, Increased serum bil...	OMIM:620010
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent infections	OMIM:605309
Nephronophthisis 13	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu...	OMIM:614377
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Krabbe Disease	Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, Reduced galactoc...	OMIM:245200
Pediatric-Onset Graves Disease	Keratitis, Graves disease, Hepatomegaly, Sinus tachycardia, Craniosynostosis, Increased circulati...	ORPHA:525731
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Diarrhea, Pulmonary embolism,...	OMIM:226300
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope...	OMIM:267500
Blau Syndrome	Keratitis, Iridocyclitis, Clear cell renal cell carcinoma, Polyarticular arthritis, Posterior uve...	ORPHA:90340
Giant Cell Arteritis	Ataxia, Double outlet right ventricle with subpulmonary ventricular septal defect without pulmona...	ORPHA:397
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir...	ORPHA:90003
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Idiopathic Hypereosinophilic Syndrome	Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphad...	ORPHA:3260
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Decreased circulating a...	OMIM:300635
Granulomatosis With Polyangiitis	Angina pectoris, Pancreatitis, Otitis media, Hematuria, Increased inflammatory response, Proteinu...	ORPHA:900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu...	OMIM:251880
Coccidioidomycosis	Pancreatitis, Abscess, Pneumonia, Pericarditis, Lymphadenopathy, Abnormality of the endocrine sys...	ORPHA:228123
Refractory Celiac Disease	Hypomagnesemia, Inflammatory abnormality of the skin, Hypophosphatemia, Hypocalcemia, Hypoprotein...	ORPHA:398063
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ...	ORPHA:976
Galloway-Mowat Syndrome 9	Gastroesophageal reflux, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Choreoa...	OMIM:619603
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas...	ORPHA:319552
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Hypocalcemia, Steatorrhea, Eczema, Diarrhea, Prolonged prothromb...	OMIM:212750
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Diarrhea, Gout, Hepatocellular adenoma...	ORPHA:79259
Carcinoid Syndrome	Atypical pulmonary carcinoid tumor, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Intes...	ORPHA:100093
Moyamoya Disease 1	Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy	OMIM:252350
Cednik Syndrome	Sensorineural hearing impairment, Ataxia, Nephrotic syndrome, Stroke, Downslanted palpebral fissu...	ORPHA:66631
Thyrocerebrorenal Syndrome	Renal insufficiency, Thrombocytopenia, Nephritis	ORPHA:3327
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