Gene: Efs MGI:105311

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

embryonal Fyn-associated substrate

Synonyms:

N/A

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 Efs 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 Efs (0 diseases)
Human diseases predicted to be associated with Efs (786 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Immunodeficiency 11	Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections	OMIM:615206
Cirrhosis, Familial	Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis	OMIM:118900
Immunodeficiency 95	Respiratory distress, Increased circulating IgG3 level, Recurrent viral upper respiratory tract i...	OMIM:619773
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Asthma, Reduced circulating interleukin 27 concentration, Increased circulating ...	OMIM:619632
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Increased circulating IgA level, Hematuria	OMIM:314000
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Immunodeficiency 18	Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu...	OMIM:615615
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Recurrent bronchitis	OMIM:216950
Immunodeficiency 25	Increased circulating IgA level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Pneumonia	OMIM:312863
Caspase 8 Deficiency	Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease...	OMIM:608106
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ...	OMIM:613494
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ...	OMIM:615897
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski...	OMIM:618944
Immunodeficiency 48	Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Pneumonia,...	OMIM:269840
Secretory Component Deficiency	Intermittent diarrhea, Secretory IgA deficiency, Chronic intestinal candidiasis	OMIM:269650
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre...	OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Hepatomegaly, Folliculitis, Recurrent skin infections, Splenomegaly, Inflammation of the...	OMIM:300635
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczema, Asthma	OMIM:147050
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Increased circulating IgG level, Recurrent lower respiratory tract infe...	OMIM:619220
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent otiti...	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren...	OMIM:605258
Immunodeficiency, Common Variable, 11	Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte...	OMIM:615767
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Diarrhea, Decreased circulating IgE, Decreased c...	OMIM:308230
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver	OMIM:235550
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Complement Component C1S Deficiency	Hepatitis, Abnormality of complement system, Hashimoto thyroiditis	OMIM:613783
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec...	OMIM:607594
Complement Component 4B Deficiency	Asthma, Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent ...	OMIM:614379
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ...	OMIM:613500
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ...	OMIM:300400
Immunodeficiency 50	Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respi...	OMIM:300988
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec...	OMIM:615207
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis	OMIM:162700
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par...	OMIM:240500
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respiratory...	OMIM:613501
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Immunodeficiency 61	Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer...	OMIM:300310
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recurrent urinary tract...	OMIM:618495
Immunodeficiency 70	Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D...	OMIM:618969
Immunodeficiency 14A, Autosomal Dominant	Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,...	OMIM:615513
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent sinopulmonary infections, Recurrent infection of the g...	OMIM:609529
Immunoglobulin A Deficiency 1	Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract...	OMIM:137100
Bare Lymphocyte Syndrome, Type Ii	Malabsorption, Colitis, Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent ...	OMIM:209920
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Asthma, Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atop...	OMIM:243700
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc...	OMIM:618394
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Recurrent respiratory infections	OMIM:613495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Chronic bronchitis, Decreased circulating antibody level, Pneumonia	OMIM:614069
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ...	OMIM:619281
Masp2 Deficiency	Complement deficiency, Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ...	OMIM:616100
Immunodeficiency 27A	Splenomegaly, Anorexia, Hepatosplenomegaly, Diarrhea, Increased circulating IgG level, Abnormal b...	OMIM:209950
Autoimmune Hepatitis	Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, F...	ORPHA:2137
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi...	OMIM:613496
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Otitis media, Purulent rhinitis, Diarrhea, Arthritis, Panhypogammaglobulinemia, Pneumonia, Conjun...	OMIM:601457
Simple Cryoglobulinemia	Complement deficiency, Monoclonal elevation of circulating IgA, Proteinuria, Abnormal lung morpho...	ORPHA:91139
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces...	OMIM:617006
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level...	OMIM:600903
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t...	OMIM:614878
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent skin infections, Diarrhea, Chronic ...	ORPHA:33110
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Asthma, Sinusitis, Recurrent upper and low...	ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169154
Iga Pemphigus	Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col...	ORPHA:555905
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Increased circulating IgA level, Nephritis, Hepatomegaly, Splenomegaly, Incre...	OMIM:603909
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira...	ORPHA:277
Interstitial Lung Disease 2	Increased circulating antibody level, Alveolar cell carcinoma, Cirrhosis, Cough, Decreased DLCO, ...	OMIM:178500
Whim Syndrome 1	Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve...	OMIM:193670
Immunodeficiency 15B	Agammaglobulinemia, Respiratory tract infection, Decreased circulating antibody level, Chronic di...	OMIM:615592
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating...	OMIM:618048
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen...	OMIM:301082
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Arthritis, ...	ORPHA:343
Immunodeficiency 44	Decreased circulating IgA level, Elevated circulating alanine aminotransferase concentration, Dec...	OMIM:616636
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Dec...	OMIM:601859
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media	OMIM:616941
Primary Biliary Cholangitis	Increased circulating IgA level, Abdominal distention, Elevated circulating alkaline phosphatase ...	ORPHA:186
Iga Nephropathy, Susceptibility To, 2	Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease	OMIM:613944
Cyanosis And Hepatic Disease	Dyspnea, Hepatitis	OMIM:219400
Alpha-1-Antitrypsin Deficiency	Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice	ORPHA:60
Renal Failure, Progressive, With Hypertension	Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease	OMIM:161900
Combined Immunodeficiency Due To Dock8 Deficiency	Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch...	ORPHA:217390
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Feeding difficulties, Recurrent skin infections, Recurrent lower...	OMIM:617744
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess	OMIM:613148
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Uve...	OMIM:617388
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, Diarrhea, Chronic lung disease, Inflammation of the large intestine, Decrea...	OMIM:618108
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:247630
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Re...	OMIM:615139
Immunodeficiency 104	Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Diarrhea, Chronic muco...	OMIM:608971
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur...	ORPHA:276
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections	OMIM:233650
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infectio...	OMIM:619752
Systemic Lupus Erythematosus 16	Nephritis	OMIM:614420
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci...	ORPHA:183675
Boutonneuse Fever	Skin rash, Abdominal pain, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, El...	ORPHA:83313
Immunodeficiency 96	Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgM l...	OMIM:617099
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Tube feeding, D...	OMIM:619510
Immunodeficiency 37	Colitis, Decreased circulating antibody level, Infectious encephalitis	OMIM:616098
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas...	ORPHA:859
Pgm3-Cdg	Eczema, Chronic sinusitis, Bone marrow hypocellularity, Lactose intolerance, Osteomyelitis, Incre...	ORPHA:443811
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent respiratory infections	OMIM:615214
Immunodeficiency, Common Variable, 10	Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Frequent Giardia lambli...	OMIM:615577
Aspergillosis	Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron...	ORPHA:1163
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:619824
Immunodeficiency 35	Increased circulating IgE level, Recurrent respiratory infections	OMIM:611521
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash	ORPHA:90000
Immunodeficiency, Common Variable, 12, With Autoimmunity	Chronic pulmonary obstruction, Recurrent skin infections, Recurrent sinusitis, Decreased circulat...	OMIM:616576
Sodium-Dependent Multivitamin Transporter Deficiency	Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level	OMIM:618973
Immunodeficiency 105	Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin...	OMIM:619924
Hyper-Igd Syndrome	Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Abdominal pain, Splenomegal...	OMIM:260920
Immune Deficiency Disease	Decreased circulating total IgM, Fulminant hepatitis, Cholangitis	OMIM:242850
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Decreased CD69 upregulation ...	OMIM:300853
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Celiac disease, Thyroiditis	OMIM:618985
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Ebola Hemorrhagic Fever	Increased circulating antibody level, Melena, Abdominal pain, Maculopapular exanthema, Diarrhea, ...	ORPHA:319218
Idiopathic Achalasia	Gastroesophageal reflux, Cough, Wheezing, Recurrent aspiration pneumonia, Bronchitis, Malnutritio...	ORPHA:930
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Keratitis, Eczema, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increased circulatin...	OMIM:618523
X-Linked Lymphoproliferative Disease	Hepatic failure, Myocarditis, Increased proportion of CD25+ mast cells, Pulmonary granulomatosis,...	ORPHA:2442
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans, Feeding difficulties, Eczema, Reduced delayed hypersensitivity, Increas...	OMIM:617241
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc...	ORPHA:562639
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgA level, Pustule, Skin rash, Increased circulating IgG level, Myositis, T...	OMIM:615934
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:618987
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Igg4-Related Aortitis	Increased circulating antibody level, Asthma, Abdominal pain, Complement deficiency, Increased ci...	ORPHA:449400
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Chronic otitis media, Arthritis, Hepatitis, A...	ORPHA:47
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased...	ORPHA:90003
Postinfectious Vasculitis	Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ...	ORPHA:48435
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru...	OMIM:266600
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreased circu...	OMIM:300755
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ...	ORPHA:572
Halothane Hepatitis	Hepatitis, Viral hepatitis, Jaundice	OMIM:234350
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent gastroenteritis, Decreased circulating IgA level, Recurrent upper and lower respiratory...	ORPHA:275
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Absent isohemagglutinin l...	OMIM:615559
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Melena, Recurrent otitis media, Increased ...	OMIM:301000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Splenomegaly, Respiratory tract infection, Recurrent otitis media	ORPHA:444463
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Complement deficiency, Decreased serum complement C4, L...	ORPHA:449395
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in...	ORPHA:2571
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis...	OMIM:619705
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tra...	OMIM:608184
Iga Nephropathy, Susceptibility To, 1	Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease	OMIM:161950
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:158061
Thrombocytopenia 1	Epistaxis, Increased circulating IgE level, Eczema, Increased circulating IgA level	OMIM:313900
Complement Factor I Deficiency	Decreased serum complement factor H, Recurrent streptococcus pneumoniae infections, Decreased ser...	OMIM:610984
Chilblain Lupus	Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, A...	ORPHA:90280
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen...	ORPHA:329918
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Villous atrophy, Chronic diarrhea, Eryth...	OMIM:304790
Angiostrongyliasis	Constipation, Increased circulating IgA level, Abdominal pain, Projectile vomiting, Increased cir...	ORPHA:74
Immunodeficiency 43	Bronchiectasis, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:241600
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Hepatic failure, Splenomegaly, Fulminant hepatitis...	OMIM:308240
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Diarrhea, Recurrent urinary tract infect...	OMIM:307200
Pneumocystosis	Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem...	ORPHA:723
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf...	OMIM:600802
Autoimmune Lymphoproliferative Syndrome	Gastritis, Hepatomegaly, Hypersplenism, Uveitis, Bone marrow hypocellularity, Increased circulati...	ORPHA:3261
Immunodeficiency 58	Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit...	OMIM:618131
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Immunodeficiency 66	Defective T cell proliferation, Pustule, Recurrent skin infections	OMIM:618847
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Respiratory distress, Gastritis, Eczema, Vomiting, Pneumonia, Malabsor...	ORPHA:37042
Legionnaires Disease	Pancreatitis, Diarrhea, Hematuria, Myocarditis, Abnormal pleura morphology, Proteinuria, Bone mar...	ORPHA:549
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Bloody diarrhea, Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ile...	OMIM:243150
Multiple Myeloma	Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Nephropathy, Increased circula...	ORPHA:29073
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failu...	OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections, Abnormal...	OMIM:613101
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Decreased circulating Ig...	OMIM:614700
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Hepatomegaly, Nephritis, Elevated circulating ...	OMIM:614034
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating...	OMIM:301081
Ciliary Dyskinesia, Primary, 44	Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu...	OMIM:618781
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cutaneo...	OMIM:147060
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Eczema, Defective T cell proliferation	OMIM:614493
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar...	ORPHA:542323
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis...	OMIM:612444
Acute Lung Injury	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:178320
Insulin Autoimmune Syndrome	Increased circulating antibody level, Arthralgia/arthritis	ORPHA:411593
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ...	ORPHA:35078
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Feeding difficulties, Aspiration pneumonia, Nasogastric tube feeding in inf...	ORPHA:141152
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis, Increased circu...	OMIM:614328
Immunodeficiency 32B	Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections	OMIM:226990
Cryoglobulinemic Vasculitis	Viral hepatitis, Circulating immune complexes, Abdominal pain, Hepatomegaly, Splenomegaly, Cryogl...	ORPHA:91138
Immunodeficiency 52	Splenomegaly, Chronic lung disease, Decreased circulating antibody level, Recurrent pneumonia, Br...	OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Sinusitis, Malabsorption, Chronic bronchitis, Diarrhea, Increase...	OMIM:242860
Immunodeficiency 46	Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrhea, Recurrent sinop...	OMIM:616740
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff...	ORPHA:411696
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro...	ORPHA:100024
Q Fever	Respiratory distress, Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, P...	ORPHA:781
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Immunodeficiency 36	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Recurrent upper r...	OMIM:616005
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc...	ORPHA:1303
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Cystic Fibrosis	Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody le...	ORPHA:586
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ...	OMIM:618986
Drug Reaction With Eosinophilia And Systemic Symptoms	Nephrotic syndrome, Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocardi...	ORPHA:139402
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Panc...	OMIM:618213
Adult-Onset Still Disease	Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic t...	ORPHA:829
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur...	ORPHA:331206
Immunodeficiency 11B With Atopic Dermatitis	Asthma, Atopic dermatitis, Pneumonia	OMIM:617638
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ...	OMIM:162000
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h...	OMIM:301045
Tempi Syndrome	Abnormality of the pulmonary vasculature, Abnormality of the kidney, Increased circulating IgG le...	ORPHA:284227
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin...	OMIM:619802
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia	OMIM:618806
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Apnea, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammatio...	OMIM:608809
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:70578
Xq28 (MECP2) duplication	Decreased circulating IgA level, Constipation, Gastroesophageal reflux, Feeding difficulties in i...	DECIPHER:45
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency 23	Asthma, Eczema, Membranoproliferative glomerulonephritis, Increased circulating IgG level, Esopha...	OMIM:615816
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ...	OMIM:613490
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Pyloric stenosis, Hepatitis, Decreased circulating antibody level, Bo...	ORPHA:381
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Arthritis, Increased circulating IgM level	ORPHA:37748
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Decreased circulating IgG2 level	OMIM:300076
Tularemia	Respiratory distress, Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis med...	ORPHA:3392
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Macronod...	OMIM:215250
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Abdominal distention, Inflammation of the large intestine	OMIM:616868
Avian Influenza	Respiratory distress, Diarrhea, Vomiting, Pneumonia, Hypoxemia, Respiratory failure, Myelitis, In...	ORPHA:454836
Pyoderma Gangrenosum	Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th...	ORPHA:48104
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Asthma, Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Hepatom...	OMIM:102700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c...	OMIM:611926
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Ciliary Dyskinesia, Primary, 42	Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ...	OMIM:618695
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ...	OMIM:214950
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis	ORPHA:90368
Common Variable Immunodeficiency	Anal atresia, Otitis media, Gastrointestinal stroma tumor, Splenomegaly, Chronic otitis media, El...	ORPHA:1572
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Reduced forced expiratory volume in one second, Decreased circulating IgA level, Gastroesophageal...	OMIM:613385
Selective Igm Deficiency	Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum...	ORPHA:331235
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Splenomegaly, Decreased circula...	OMIM:619381
Peeling Skin Syndrome 1	Erythroderma, Asthma, Increased circulating IgE level	OMIM:270300
Primary Sclerosing Cholangitis	Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep...	ORPHA:171
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Desquamative interstitial pneumonitis, Eczema, Interstitial pn...	OMIM:615952
Reticular Dysgenesis	Malabsorption, Skin rash, Diarrhea, Chronic otitis media, Decreased circulating antibody level, R...	ORPHA:33355
Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro...	ORPHA:83471
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly	OMIM:615285
Complement Factor B Deficiency	Peritonitis, Decreased serum complement factor B, Pneumonia	OMIM:615561
Graft Versus Host Disease	Recurrent gastroenteritis, Inflammatory abnormality of the skin, Elevated circulating alkaline ph...	ORPHA:39812
Insulin-Resistance Syndrome Type B	Decreased serum complement factor B, Nephritis, Increased circulating IgA level, Skin rash, Osteo...	ORPHA:2298
Brucellosis	Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Pulmonary granulomatosis, Pneumonia, Knee oste...	ORPHA:1304
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent pn...	OMIM:601495
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop...	OMIM:619079
Idiopathic Chronic Eosinophilic Pneumonia	Asthma, Nonproductive cough, Atopic dermatitis, Crackles, Abnormality of the gastrointestinal tra...	ORPHA:2902
Melioidosis	Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon...	ORPHA:31202
Ciliary Dyskinesia, Primary, 23	Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir...	OMIM:615451
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Decreased serum complement C4, Diarrhea, Vomiting, Hematuria, Proteinuria, Da...	ORPHA:93552
Netherton Syndrome	Asthma, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villous atrophy, ...	OMIM:256500
Young Syndrome	Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul...	OMIM:279000
Tubulointerstitial Nephritis With Uveitis	Panuveitis, Circulating immune complexes, Anterior uveitis, Reversible renal failure, Uveitis, Gl...	OMIM:607665
Netherton Syndrome	Asthma, Malabsorption, Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ec...	ORPHA:634
Trichothiodystrophy 3, Photosensitive	Pyloric stenosis, Meckel diverticulum, Increased circulating IgA level, Feeding difficulties	OMIM:616395
Rift Valley Fever	Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Hematuria, Elevated he...	ORPHA:319251
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility	OMIM:266265
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Pulmonary embolism, Vomiting, Intestinal o...	OMIM:226300
Liver Failure, Infantile, Transient	Abdominal distention, Decreased circulating IgG level, Hepatomegaly, Acute hepatic failure, Micro...	OMIM:613070
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Complement defic...	ORPHA:449432
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Cirrhosis, Diarrh...	OMIM:607765
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Mounier-Kühn Syndrome	Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections	ORPHA:3347
Idiopathic Bronchiectasis	Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato...	ORPHA:60033
T-Cell Immunodeficiency With Thymic Aplasia	Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Hepatosplenomegaly, Reduc...	OMIM:242700
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage...	OMIM:609057
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Splenomegaly	OMIM:183350
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti...	OMIM:619436
Microlissencephaly	Pneumonia	ORPHA:1083
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glo...	OMIM:619858
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Nephrotic syndrome, Splenomegaly, Eczema, Lymphadenitis, Hepatosplenomegaly, Acu...	OMIM:618935
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczema, Decreased circulating antibody level, Recurrent respiratory ...	OMIM:618116
African Iron Overload	Abnormal pancreas morphology, Viral hepatitis, Hepatomegaly, Micronodular cirrhosis, Peritonitis,...	ORPHA:139507
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis, Recurrent respiratory infections	ORPHA:363523
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp...	OMIM:615294
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Nausea, Hashim...	OMIM:618549
Ciliary Dyskinesia, Primary, 39	Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ...	OMIM:618254
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent...	ORPHA:79303
Autoimmune Polyendocrinopathy Type 4	Iridocyclitis, Rheumatoid arthritis, Xerostomia, Abnormal pulmonary interstitial morphology, Hepa...	ORPHA:227990
Cystic Echinococcosis	Increased circulating antibody level, Abdominal symptom, Cholestatic liver disease, Elevated circ...	ORPHA:400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Sec...	OMIM:600351
Systemic Lupus Erythematosus	Nephritis, Arthritis, Pleuritis, Lupus nephritis, Malar rash, Pericarditis	OMIM:152700
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Abnormality of the urinary system, Respiratory failure requiring assisted v...	ORPHA:90117
Cholesterol Pneumonia	Cough, Pneumonia, Tachypnea	OMIM:215030
Ciliary Dyskinesia, Primary, 27	Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir...	OMIM:615504
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Igg4-Related Pachymeningitis	Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I...	ORPHA:449427
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Prolidase Deficiency	Increased circulating antibody level, Asthma, Hepatomegaly, Splenomegaly, Eczema, Elevated circul...	OMIM:170100
Ciliary Dyskinesia, Primary, 33	Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili...	OMIM:616726
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenom...	OMIM:617303
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Decreased lymphocyte apoptosis,...	OMIM:614470
Lassa Fever	Jaundice, Abdominal pain, Diarrhea, Cough, Oliguria, Increased circulating IgM level, Dysphagia, ...	ORPHA:99824
Bacterial Toxic-Shock Syndrome	Respiratory distress, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis...	ORPHA:36234
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Pustule	ORPHA:48377
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Otitis media, D...	ORPHA:420741
Trichohepatoenteric Syndrome 2	Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Villous atrophy, ...	OMIM:614602
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Gastroesophageal Reflux	Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus	OMIM:109350
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	ORPHA:2643
Caffey Disease	Feeding difficulties in infancy, Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Microsporidiosis	Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormal...	ORPHA:2552
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase...	OMIM:256040
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B...	OMIM:608644
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Constipation, Decreased circulating IgG level, Feeding difficult...	OMIM:617062
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Reduced delayed hypersensitivity	OMIM:607624
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Eczema, Vomiting, Decreased circulating antibody level, Recurrent pneumonia, Septic arthritis	OMIM:617780
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Aminoacidu...	OMIM:613404
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Otitis media, Splenomegaly, Recurrent upper respiratory tract infections, Panhypoga...	OMIM:602450
Cleft Velum	Nasal regurgitation, Aspiration pneumonia, Poor suck, Recurrent otitis media, Oral-pharyngeal dys...	ORPHA:99772
Autoimmune Polyendocrinopathy Type 3	Iridocyclitis, Rheumatoid arthritis, Xerostomia, Abnormal pulmonary interstitial morphology, Hepa...	ORPHA:227982
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C...	ORPHA:911
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Pneumonia, Lymphadenitis	ORPHA:319552
Wilson Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Arthritis, Elevated hepatic transam...	ORPHA:905
Lambert Syndrome	Intrahepatic biliary atresia, Hypospadias, Cholestasis, Decreased circulating antibody level, Jau...	ORPHA:1296
Lymphangiectasia, Intestinal	Malabsorption, Decreased circulating IgG level, Intestinal lymphangiectasia	OMIM:152800
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections	OMIM:253240
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection	ORPHA:2688
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Xerostomia, Myositis, Increased circulating IgG4 level, Tubuloin...	ORPHA:79078
Good Syndrome	Sinusitis, Recurrent skin infections, Diarrhea, Recurrent urinary tract infections, Cough, Dyspha...	ORPHA:169105
Rigid Spine Syndrome	Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia	ORPHA:97244
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophageal stenosis	OMIM:615190
Primary Sjögren Syndrome	Airway obstruction, Chronic active hepatitis, Complement deficiency, Decreased serum complement C...	ORPHA:289390
Ciliary Dyskinesia, Primary, 41	Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media	OMIM:618449
Tracheobronchopathia Osteochondroplastica	Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Esophagitis, Pneumonia, Upp...	ORPHA:3348
Idiopathic Pulmonary Fibrosis	Gastroesophageal reflux, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters...	ORPHA:2032
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Cholelithiasis, Giant cell hepatitis, Jaundice	OMIM:214980
Ciliary Dyskinesia, Primary, 7	Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric...	OMIM:611884
Fechtner syndrome	Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease	OMIM:153640
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Splenomegaly, Hepatosple...	OMIM:615122
Myh9-Related Disease	Nephritis, Nephropathy, Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal in...	ORPHA:182050
Kimura Disease	Increased circulating IgE level	ORPHA:482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Thyroiditis, Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Hepatosplenom...	ORPHA:391487
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased circu...	OMIM:618042
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Hepatomegaly, Pulmonary fibrosis, Recurrent respiratory infections, He...	ORPHA:79124
Ciliary Dyskinesia, Primary, 28	Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir...	OMIM:615505
Zygomycosis	Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in...	ORPHA:73263
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Elevated hepatic tran...	ORPHA:507
Isolated Agammaglobulinemia	Sinusitis, Malabsorption, Skin rash, Otitis media, Diarrhea, Arthritis, Pneumonia, Inflammatory a...	ORPHA:229717
Nephronophthisis-Like Nephropathy 2	Polyuria, Cough, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, Bronch...	OMIM:619468
Alport Syndrome	Glomerular C3 deposition, Vomiting, Hematuria, Thickened glomerular basement membrane, Proteinuri...	ORPHA:63
Reticular Dysgenesis	Lack of T cell function, Impaired T cell function	OMIM:267500
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Tracheobronchomegaly	Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:275300
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections	OMIM:251190
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Reduced vital capacity, Feeding difficulties, Respiratory insufficiency ...	ORPHA:171442
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis	OMIM:613960
Alport Syndrome 2, Autosomal Recessive	Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re...	OMIM:203780
Alpha-Heavy Chain Disease	Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, Dy...	ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Elevated circulating alkalin...	OMIM:614576
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level, Bloody diarrhea, Nephrotic syndrome, Hepatomegaly, Hemateme...	OMIM:615846
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Ciliary Dyskinesia, Primary, 36, X-Linked	Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ...	OMIM:300991
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:275350
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Scedosporiosis	Bronchial breath sound, Sinusitis, Osteomyelitis, Abnormal jejunum morphology, Pleural empyema, E...	ORPHA:449280
Ciliary Dyskinesia, Primary, 32	Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp...	OMIM:616481
Coccidioidomycosis	Respiratory distress, Pancreatitis, Pneumonia, Pericarditis, Osteomyelitis, Peritonitis, Increase...	ORPHA:228123
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Otitis media, Splenomegaly,...	OMIM:613179
Inflammatory Bowel Disease 11	Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia	OMIM:191390
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur...	OMIM:619466
Zika Virus Disease	Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Infectious encephalitis, Incre...	ORPHA:448237
Diarrhea 12, With Microvillus Atrophy	Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ...	OMIM:619445
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ...	OMIM:612567
Ciliary Dyskinesia, Primary, 11	Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato...	OMIM:612649
Severe Acute Respiratory Syndrome	Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi...	ORPHA:140896
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating aspartate aminotransferase concentration, Elevated serum transaminases durin...	OMIM:611182
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Porphyrinuria, Viral hepatitis, Periportal fibrosis, Abnorma...	ORPHA:101330
Enterocolitis	Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia	OMIM:226150
Hirschsprung Disease, Susceptibility To, 1	Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp...	OMIM:142623
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Sinusitis, Hepatomegaly, Skin rash, Splenomegaly, Myositis,...	OMIM:617591
Visceral Myopathy 2	Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en...	OMIM:619350
Immunodeficiency 17	Recurrent gastroenteritis, Chronic oral candidiasis, Chronic decreased cirulating IgG2, Eczema, C...	OMIM:615607
Immunodeficiency 59 And Hypoglycemia	Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa...	OMIM:233600
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 67	Increased circulating IgE level, Liver abscess	OMIM:607676
Xanthinuria, Type I	Xanthinuria, Hydronephrosis, Pyelonephritis, Reduced xanthine dehydrogenase level, Xanthine nephr...	OMIM:278300
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Sclerosing cholangitis, Increased circulating IgG4 level, Retroperitoneal fi...	ORPHA:64744
Nephronophthisis 18	Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub...	OMIM:615862
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, I...	OMIM:208085
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary...	OMIM:615067
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Interstitial Lung Disease 1	Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ...	OMIM:619611
Neuronal Intestinal Pseudoobstruction	Malabsorption, Decreased circulating antibody level	ORPHA:99811
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D...	OMIM:300972
Ciliary Dyskinesia, Primary, 26	Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir...	OMIM:615500
Beta-Thalassemia	Cholelithiasis, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Hepatitis	ORPHA:848
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Anorexia, Diarrhea, Recurrent urinary tract infections, Decre...	ORPHA:90045
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta...	OMIM:614921
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections	OMIM:615872
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased circulating anti...	OMIM:619846
Posterior Urethral Valve	Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ...	ORPHA:93110
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce...	OMIM:619374
Whim Syndrome	Sinusitis, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections, Severe peri...	ORPHA:51636
Secondary Intestinal Lymphangiectasia	Decreased circulating IgA level, Malabsorption, Intestinal bleeding, Intussusception, Cirrhosis, ...	ORPHA:90363
Ciliary Dyskinesia, Primary, 12	Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary...	OMIM:612650
Retinal Dystrophy And Microvillus Inclusion Disease	Bronchiectasis, Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent lower r...	OMIM:619446
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Infection-Related Hemolytic Uremic Syndrome	Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Pneumonia, Decreased urine outpu...	ORPHA:544482
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function, Recurrent respiratory infection...	ORPHA:2585
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Recurren...	OMIM:618282
Ciliary Dyskinesia, Primary, 14	Chronic bronchitis, Otitis media, Neonatal respiratory distress, Wheezing, Cough, Chronic sinusit...	OMIM:613807
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Feeding difficulties, Recurrent aspiration pneumonia, Intermittent diarr...	OMIM:619971
Bloom Syndrome	Recurrent gastroenteritis, Cheilitis, Otitis media, Stomach cancer, Uveitis, Pneumonia, Gastrosto...	ORPHA:125
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti...	ORPHA:79127
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Dec...	OMIM:612301
Immunodeficiency 75	Bronchiectasis, Hepatosplenomegaly, Recurrent respiratory infections	OMIM:619126
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Abdominal ...	ORPHA:90362
Autosomal Dominant Polycystic Kidney Disease	Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e...	ORPHA:730
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir...	OMIM:608647
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia, Respiratory failure, Nasogastric tube feeding, Neonatal respiratory distress	OMIM:619057
Ciliary Dyskinesia, Primary, 25	Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis...	OMIM:615482
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media	OMIM:620032
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Pyelonephritis, Unilateral renal atrophy, Nephritis, Renal dysplasia	OMIM:314300
Relapsing Polychondritis	Keratitis, Hematuria, Myocarditis, Uveitis, Proteinuria, Anteriorly placed anus, Pericarditis, In...	ORPHA:728
Sarcoidosis, Susceptibility To, 1	Iridocyclitis, Hepatomegaly, Uveitis, Increased circulating antibody level, Splenomegaly, Inflamm...	OMIM:181000
Al Amyloidosis	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Renal interstitial amyloid...	ORPHA:85443
Thymic Tumor	Cough, Dysgammaglobulinemia, Dysphagia, Dyspnea, Pericarditis	ORPHA:100100
Alport Syndrome 3, Autosomal Dominant	Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici...	OMIM:104200
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Steatorrhea, Abnormal renal tubule morphology, Cholestasis, Hepatitis,...	ORPHA:440713
Neonatal Alloimmune Neutropenia	Jaundice, Pneumonia	ORPHA:464370
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transaminase, Tubulointerstitial nephri...	OMIM:614817
Pulmonary Alveolar Proteinosis, Acquired	Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventilatory defect, P...	OMIM:610910
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec...	ORPHA:93108
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Stomatitis, Decreased circulating an...	OMIM:613011
Thymoma	Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Myo...	ORPHA:99867
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal...	OMIM:612387
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin rash, Recurrent urinary tract infections, Hematuria, Cough, Feeding difficulties ...	ORPHA:1334
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab...	OMIM:614017
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Panuveitis, Decreased glomerular filtration rate, Posterior uveitis,...	ORPHA:91500
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis	OMIM:618801
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Recurrent ...	OMIM:301078
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie...	OMIM:604571
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Ciliary Dyskinesia, Primary, 15	Chronic bronchitis, Neonatal respiratory distress, Cough, Wheezing, Chronic sinusitis, Recurrent ...	OMIM:613808
Alstrom Syndrome	Asthma, Chronic active hepatitis, Hepatomegaly, Nephritis, Otitis media, Elevated hepatic transam...	OMIM:203800
Alveolar Echinococcosis	Abnormality of bladder morphology, Increased circulating antibody level, Decreased liver function...	ORPHA:284
Ciliary Dyskinesia, Primary, 24	Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis	OMIM:615481
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduc...	OMIM:617091
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor	ORPHA:2375
X-Linked Centronuclear Myopathy	Respiratory distress, Poor suck, Respiratory failure requiring assisted ventilation, Feeding diff...	ORPHA:596
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Erythroderma	ORPHA:3162
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu...	OMIM:610913
Immunodeficiency 62	Bronchiectasis	OMIM:618459
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Tick-Borne Encephalitis	Anorexia, Myelitis, Vomiting, Increased circulating IgG level, Abnormality of serum cytokine leve...	ORPHA:297
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Hypospadias	OMIM:616910
Vici Syndrome	Decreased circulating IgG level, Renal tubular acidosis, Feeding difficulties, Feeding difficulti...	ORPHA:1493
Lichen Planopilaris	Hepatitis, Abnormal intestine morphology	ORPHA:525
Gaucher Disease Type 1	Increased circulating antibody level, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cirrh...	ORPHA:77259
Crimean-Congo Hemorrhagic Fever	Melena, Hepatomegaly, Hemoperitoneum, Hepatic failure, Hemothorax, Diarrhea, Hematuria, Myocardit...	ORPHA:99827
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic rhinitis, Recurre...	OMIM:618699
Congenital Bile Acid Synthesis Defect Type 4	Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Abnormal enzyme/coenzyme activit...	ORPHA:79095
Esophagitis, Eosinophilic, 2	Dysphagia, Vomiting, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Dysphagia, Vomiting, Esophagitis	OMIM:610247
Igg4-Related Ophthalmic Disease	Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Abnormality of the kidney, Neoplasm of...	ORPHA:449563
Congenital Enterovirus Infection	Respiratory distress, Skin rash, Hepatic failure, Myocarditis, Cholestasis, Hepatitis, Infectious...	ORPHA:292
Alopecia Antibody Deficiency	Decreased circulating antibody level, Recurrent respiratory infections	ORPHA:1006
Cd8 Deficiency, Familial	Bronchiectasis, Recurrent respiratory infections	OMIM:608957
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Episodic vomiting, Protein avoidance, Acute hepatitis	OMIM:238970
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga...	ORPHA:209902
Shigellosis	Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Urethritis, Vomiting, Myocarditis, Cho...	ORPHA:810
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Hepatitis, Jaundice	OMIM:194380
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Chronic lung disease, Hepatitis, Hypersplen...	ORPHA:228426
Lead Poisoning	Abdominal cramps, Renal tubular dysfunction, Chronic kidney disease, Asthma, Constipation, Abdomi...	ORPHA:330015
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp...	ORPHA:264675
Lipodystrophy, Congenital Generalized, Type 4	Ileus, Decreased circulating IgA level, Constipation, Hepatomegaly, Feeding difficulties, Splenom...	OMIM:613327
Familial Mediterranean Fever	Crohn's disease, Nephrotic syndrome, Orchitis, Episodic abdominal pain, Abdominal pain, Hepatomeg...	OMIM:249100
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Chronic otitis media, Cough, Increased circulating IgE level, R...	ORPHA:2314
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rh...	OMIM:618063
Ciliary Dyskinesia, Primary, 13	Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect...	OMIM:613193
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgA level, Nephrotic syndrome, Decreased circulating IgG level, Hepatomegal...	OMIM:212065
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Gas...	ORPHA:79324
Ciliary Dyskinesia, Primary, 30	Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira...	OMIM:616037
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steatorrhea, Eczema, Diarr...	OMIM:212750
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Melena, Decreased glomerular filtration rate, Diarrh

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