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Gene: Tnfrsf1b MGI:1314883

Gene Summary

Name:

tumor necrosis factor receptor superfamily, member 1b

Synonyms:

TNFalpha-R2, Tnfr2, p75, TNF-R2, CD120b, p75 TNFR, TNFRII, TNFBR, TNF-R-II, TNF-R75, TNFR80, TNF-alphaR2

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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased prepulse inhibition	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.44×10^-05
decreased locomotor activity	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.54×10^-06
decreased T cell number	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.88×10^-05
increased B cell number	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.42×10^-05
increased circulating total protein level	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.42×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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 Tnfrsf1b 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 Tnfrsf1b (2 diseases)
Human diseases predicted to be associated with Tnfrsf1b (752 diseases)

The table below shows human diseases associated to Tnfrsf1b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Classic Mycosis Fungoides		Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Abnor...	ORPHA:2584
Sézary Syndrome		Cutaneous T-cell lymphoma, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegal...	ORPHA:3162

The table below shows human diseases predicted to be associated to Tnfrsf1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
C1Q Deficiency 1	Recurrent infections, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Complement Component 8 Deficiency, Type I	Meningitis, Systemic lupus erythematosus	OMIM:613790
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Autoimmunity...	OMIM:137100
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmunity	OMIM:609529
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo...	ORPHA:158048
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respirator...	ORPHA:70587
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crackles, ...	ORPHA:264675
Microlissencephaly	Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen...	ORPHA:1083
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Autoimmunity	OMIM:612227
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent tonsillitis, Recurrent pneumonia, Systemic lupus erythe...	OMIM:613779
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi...	OMIM:241600
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia, Hypercapnia	OMIM:601887
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Right ventricular failure, Reduced forced vital capacity, Nonpr...	ORPHA:2302
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem...	OMIM:269840
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v...	ORPHA:70588
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Isolated Right Ventricular Hypoplasia	Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re...	OMIM:612444
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular...	ORPHA:3282
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Eosinophilopenia	Autoimmunity, Allergic rhinitis	OMIM:131430
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:444463
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac...	ORPHA:36238
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodie...	OMIM:607594
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Mahvash Disease	Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia	OMIM:619290
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre...	OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly	OMIM:618982
Acute Lung Injury	Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Hypoxemi...	ORPHA:178320
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum...	OMIM:300400
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Chylous Ascites	Pancreatitis	ORPHA:1160
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly,...	OMIM:226990
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Gallbladder Disease 1	Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du...	OMIM:600803
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma	ORPHA:141152
Pulmonary Arteriovenous Malformation	Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Tel...	ORPHA:2038
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea...	OMIM:618459
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Slc35A1-Cdg	Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pleural effusio...	OMIM:612387
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent circul...	OMIM:620282
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Lymphoma, Bronchiectasis, Decreased proportion of class-switche...	OMIM:619126
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Ventilator-Induced Diaphragmatic Dysfunction	Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red...	ORPHA:505395
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Hypertens...	ORPHA:79126
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El...	OMIM:615559
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left...	ORPHA:542323
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportuni...	ORPHA:275
Dengue Fever	Lethargy, Thrombocytopenia, Hypoproteinemia, Leukopenia	ORPHA:99828
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Decreased circulating antibody level, Arthriti...	ORPHA:397596
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasi...	OMIM:613490
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Hypoxemia, Restrictive ventilatory defe...	ORPHA:2902
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:300991
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti...	ORPHA:90060
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli...	ORPHA:65682
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613502
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Perry Syndrome	Central hypoventilation, Hypotension	ORPHA:178509
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythro...	ORPHA:169160
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis	OMIM:612692
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Tempi Syndrome	Hypoxemia, Transudative pleural effusion, Intracranial hemorrhage, Telangiectasia	ORPHA:284227
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect...	OMIM:611884
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pulmonary Capillary Hemangiomatosis	Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Hypoxemia,...	ORPHA:199241
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Recurrent infections	ORPHA:704
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:411593
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Tachypnea, Left ventricular outfl...	ORPHA:860
Immunodeficiency, Common Variable, 2	Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivitis, Recurrent ...	OMIM:240500
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia...	ORPHA:3392
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Specific Granule Deficiency 1	Recurrent bacterial infections	OMIM:245480
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect...	ORPHA:1163
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Decreased heart rate variability, H...	OMIM:209880
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, S...	OMIM:619375
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurren...	OMIM:619752
Combined Oxidative Phosphorylation Deficiency 52	Hepatic steatosis, Pancreatitis, Adrenal insufficiency	OMIM:619386
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S...	ORPHA:69663
Pancreatitis, Hereditary	Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency	OMIM:167800
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecific interstitial pn...	OMIM:610921
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Chronic oral candidiasis, Decreased proportion of n...	ORPHA:276
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis	OMIM:620137
Nipah Virus Disease	Respiratory distress, Hypotension, Cough	ORPHA:99825
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino...	OMIM:603471
Lymphoid Interstitial Pneumonia	Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restrictive ventilato...	ORPHA:79128
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f...	ORPHA:83471
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Hepatic steatosis, Pancreatitis	OMIM:618805
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Splenome...	OMIM:618935
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Severe varicella zos...	OMIM:615387
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f...	ORPHA:2032
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Immunodeficiency 92	Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Autoimmunity, Minimal change glomerulonephritis	OMIM:617006
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez...	OMIM:613807
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Anti-thyroid peroxidase antibody positivity, Recurrent upper respiratory tract infe...	ORPHA:277
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform de...	OMIM:616100
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ...	ORPHA:727
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n...	OMIM:617092
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Narcolepsy 3	Narcolepsy	OMIM:609039
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr...	ORPHA:1572
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Subcorneal Pustular Dermatosis	Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Hypot...	ORPHA:48377
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc...	ORPHA:70591
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br...	ORPHA:449280
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase...	ORPHA:167
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Tachypnea,...	ORPHA:555874
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Placental Insufficiency	Hypoxemia	ORPHA:439167
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron...	OMIM:604571
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo...	OMIM:618222
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis	ORPHA:79312
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Mitral stenosis, Palpitations	ORPHA:2847
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract...	OMIM:616005
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun...	OMIM:613179
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec...	ORPHA:331235
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Recurrent candida...	ORPHA:572
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Hyperparathyroidism 2 With Jaw Tumors	Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma	OMIM:145001
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Absence Of The Pulmonary Artery	Orthopnea, Abnormal EKG, Cyanosis, Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Non...	ORPHA:980
Bullous Pemphigoid	Autoimmunity, Recurrent infections	ORPHA:703
Hereditary Chronic Pancreatitis	Jaundice, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Cardiorespiratory arrest, Hypotension, Cough, Arrhythmia, Pleural effu...	ORPHA:188
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth...	ORPHA:97287
Narcolepsy 1	Narcolepsy	OMIM:161400
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloi...	ORPHA:37042
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im...	OMIM:618063
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre...	OMIM:616037
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, B-cell lymphoma, Autoimmune thrombocytopenia, Decreased circ...	OMIM:102700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Pulmonary Alveolar Microlithiasis	Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Nonproductive cough...	ORPHA:60025
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory failure, Resp...	ORPHA:449285
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613496
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum...	ORPHA:330021
Cach Syndrome	Optic neuritis, Pancreatitis, Hepatosplenomegaly	ORPHA:135
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic...	OMIM:242860
Malignant Hyperthermia Of Anesthesia	Hypercapnia, High-output congestive heart failure, Tachypnea, Ventricular tachycardia, Premature ...	ORPHA:423
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec...	ORPHA:169090
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Chronic mu...	ORPHA:98813
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur...	OMIM:147060
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis	ORPHA:27
Renal Tubular Dysgenesis	Hypotension, Respiratory insufficiency	OMIM:267430
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Hypoproteinemia, ...	OMIM:615895
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,...	OMIM:164310
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic mucocu...	OMIM:116920
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis	OMIM:617475
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Pneumonia	OMIM:608033
Immunodeficiency 58	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti...	OMIM:618131
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of...	ORPHA:662
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardiorespiratory arrest, Premat...	OMIM:212138
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections	OMIM:612783
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe...	ORPHA:85414
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurrent upper respiratory tract i...	OMIM:602450
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit...	ORPHA:549
Hydroxykynureninuria	Tachycardia, Hypotension, Breathing dysregulation	ORPHA:79155
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hypotension	ORPHA:369873
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Anemia, Squamous cell carcinoma of the skin, Pulmonary fibrosis, Emphysema, Lymph...	OMIM:620365
Propionic Acidemia	Hepatomegaly, Eczema, Pancreatitis	OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Simplified gyral pattern, Respiratory insufficiency, Hyperammonemia, Aspir...	OMIM:618253
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Tricuspid regurgitat...	ORPHA:97214
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:233690
Narcolepsy 7	Narcolepsy	OMIM:614250
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Omenn Syndrome	Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Erythroderma, Abnorma...	ORPHA:39041
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter...	OMIM:620296
Johanson-Blizzard Syndrome	Hypoproteinemia, Anemia	ORPHA:2315
Bloom Syndrome	Bronchitis, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased circulating IgG le...	ORPHA:125
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Bronchospasm, Palpitations, Hypotensi...	ORPHA:100080
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,...	ORPHA:2552
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:2348
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Hypothyroidism, Pancreatitis	ORPHA:412057
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis	ORPHA:79083
Maple Syrup Urine Disease	Pancreatitis	OMIM:248600
Hypocalciuric Hypercalcemia, Familial, Type Ii	Primary hyperparathyroidism, Pancreatitis	OMIM:145981
Cutaneous Mastocytoma	Dyspnea, Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly	OMIM:251000
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneu...	OMIM:127550
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea...	OMIM:261740
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia	ORPHA:100024
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive...	OMIM:187300
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Scrub Typhus	Dyspnea, Myocarditis, Restrictive ventilatory defect, Hypotension, Cough	ORPHA:83317
Immunodeficiency 40	Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte...	OMIM:616433
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis	OMIM:610475
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Autoimmunity, Panniculitis, Cirrhosis, Hepatic steatosis	ORPHA:79086
Rh Deficiency Syndrome	Hypoxemia, Tachycardia, Tachypnea	ORPHA:71275
Sickle Cell Anemia	Hypoxemia	ORPHA:232
Infant Botulism	Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Hypertension, Hypotension	ORPHA:178478
Sickle Cell Disease	Hypoxemia, Hypertension	OMIM:603903
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Autoimmunity, Portal hypertension, Hepatocellular carcinoma, Sp...	ORPHA:171
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroiditis, Tubulointe...	ORPHA:139402
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Achondroplasia	Hypoxemia, Restrictive ventilatory defect	ORPHA:15
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ...	ORPHA:276399
Immunodeficiency 77	Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess	OMIM:619223
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Autoimmunity, Abnormality of thyroid physiology, Minimal change glomerulonephritis	ORPHA:1830
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Bronchospasm, Palpitati...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Bronchospasm, Palpitati...	ORPHA:100082
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, R...	OMIM:615468
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen...	OMIM:619381
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly	ORPHA:1655
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Hypotension, Hypocapnia, Abnor...	ORPHA:466650
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi...	ORPHA:93126
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage	OMIM:263400
Riddle Syndrome	Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Neonatal asphyxia, R...	ORPHA:420741
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat...	ORPHA:159
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis	OMIM:236200
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr...	ORPHA:1304
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections	OMIM:619693
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Gliosis, Recurrent aspiration pneumonia, Astr...	ORPHA:204
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Timothy Syndrome	Pneumonia, Bronchitis, Patent ductus arteriosus, Hypocalcemia, Pulmonary arterial hypertension	OMIM:601005
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension	OMIM:611489
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Interstitial Lung And Liver Disease	Hypoxemia, Dyspnea, Respiratory insufficiency, Cough	OMIM:615486
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Cerebellar gliosis, Gliosis, Basal gangl...	ORPHA:79243
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Inability to walk, Choreoathetosis,...	OMIM:208900
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ...	ORPHA:2357
Mirizzi Syndrome	Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph...	ORPHA:521219
Q Fever	Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomega...	ORPHA:781
Analbuminemia	Hypotension	OMIM:616000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Orofaciodigital Syndrome Viii	Hamartoma, Recurrent aspiration pneumonia	OMIM:300484
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno...	ORPHA:79124
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis	OMIM:278740
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Aregenerative Anemia	Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, Bo...	ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Recurrent viral infections	OMIM:618048
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Hepat...	OMIM:232220
Cocaine Intoxication	Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infar...	ORPHA:90068
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Retroperitoneal f...	ORPHA:449395
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ...	OMIM:606367
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, ...	ORPHA:64744
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis, Cutaneous m...	OMIM:278720
Aicardi-Goutieres Syndrome 9	Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertensio...	OMIM:619487
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Recurrent lower respiratory tra...	OMIM:308230
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, My...	ORPHA:811
Mccune-Albright Syndrome	Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat...	ORPHA:562
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Heart murmur, Hypoxemia, Mitral regurgita...	ORPHA:284979
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Jaundice, Pancreatitis	ORPHA:370348
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Familial Chylomicronemia Syndrome	Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat...	ORPHA:444490
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H...	ORPHA:73263
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel...	ORPHA:342
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Inflammatory a...	ORPHA:900
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension	OMIM:620125
Colchicine Poisoning	Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hypoxemia	ORPHA:456312
Dysbetalipoproteinemia	Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Hypothyroidism	ORPHA:412
Relapsing Fever	Tachycardia, Epistaxis, Hypotension, Cough	ORPHA:91547
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Abnormal respiratory system physiology, Intracranial hemorrha...	ORPHA:90062
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur...	ORPHA:31826
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As...	ORPHA:2020
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Hypotension	ORPHA:33475
Congenital Myopathy 13	Hypoxemia, Restrictive ventilatory defect, Hypercapnia	OMIM:255995
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen...	ORPHA:227990
Shigellosis	Hyponatremia, Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Abnormal...	ORPHA:810
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Anterior predominant thick cortex pachygyria, Aspiration pneumonia, ...	ORPHA:95232
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune hypoparathyroi...	ORPHA:227982
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc...	OMIM:306400
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Bronchospasm, Palpitatio...	ORPHA:100075
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P...	ORPHA:228123
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Keratitis, Retroperitoneal fibrosis, Orchitis, Antinuclear antibody posit...	ORPHA:449563
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension	ORPHA:556037
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Wheezing, Hypotension	ORPHA:79456
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis	ORPHA:319218
Sarcoidosis, Susceptibility To, 1	Dyspnea, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pleural effusion, Cough, Pulm...	OMIM:181000
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis	ORPHA:26791
Necrotizing Enterocolitis	Shock, Apnea, Bradycardia, Hypotension	ORPHA:391673
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis,...	ORPHA:79259
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Astrocytoma, Glioma, Brain neoplasm, Soft tissue neoplasm, Pilomatrixoma...	ORPHA:99818
Glycogen Storage Disease Ia	Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma	OMIM:232200
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Pancreatitis	OMIM:600740
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Respiratory insuff...	ORPHA:3452
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Mirage Syndrome	Hyponatremia, Myelodysplasia, Patent ductus arteriosus, Hyperkalemia, Anemia, Leukopenia, Aspirat...	OMIM:617053
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephalitis, Autoimmune thr...	ORPHA:391487
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:280365
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Sepsis In Premature Infants	Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respirato...	ORPHA:90051
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Acute colitis, Increased circulating interleukin 6...	ORPHA:544482
Cholera	Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyperventilation	ORPHA:173
Familial Hypocalciuric Hypercalcemia	Autoimmunity, Pancreatitis	ORPHA:405
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension	ORPHA:556030
Congenital Enterovirus Infection	Respiratory distress, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion	ORPHA:292
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypotension	ORPHA:91354
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Rest...	OMIM:607944
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ...	ORPHA:2298
Chronic Visceral Acid Sphingomyelinase Deficiency	Progressive pulmonary function impairment, Respiratory failure requiring assisted ventilation, Ab...	ORPHA:77293
Serotonin Syndrome	Hypertension, Tachycardia, Tachypnea, Hypotension	ORPHA:43116
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat...	ORPHA:3260
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Pulmonary arterial hypertension	ORPHA:2282
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thromboc...	ORPHA:1855
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Corticosterone Methyloxidase Type I Deficiency	Hypotension	OMIM:203400
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l...	ORPHA:340
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot...	OMIM:618268
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension	OMIM:264350
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar...	ORPHA:1018
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the s...	OMIM:620040
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Rec...	ORPHA:293978
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Hypotension, Inspiratory stridor	ORPHA:100050
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Meningitis	ORPHA:36412
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Recurre...	ORPHA:221139
Seckel Syndrome 10	Acute pancreatitis, Hepatic steatosis, Elevated circulating follicle stimulating hormone level, E...	OMIM:617253
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoxemia	ORPHA:556955
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Beta-Ketothiolase Deficiency	Hypertension, Tachypnea, Hypotension, Cough	ORPHA:134
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Lysinuric Protein Intolerance	Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Antinucl...	ORPHA:470
Acute Radiation Syndrome	Interstitial pneumonitis, Hypotension, Telangiectasia	ORPHA:454831
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Lipid accumulation in hepatocytes, Jaundice	ORPHA:20
Poliomyelitis	Respiratory failure requiring assisted ventilation, Hypertension, Respiratory failure, Hypovolemi...	ORPHA:2912
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Nonproductive cough, Myocarditis, Subconjunctival hemorrha...	ORPHA:319213
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension	OMIM:177735
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Recurrent bacterial infections, Recurrent abscess formation, Chronic oral ca...	OMIM:608233
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegal...	OMIM:615846
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Melanoma, Squamous cell carcinoma of the skin, Conjunctivitis	OMIM:278700
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Apnea, Cardiorespiratory arrest	OMIM:608643
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis	ORPHA:565612
Congenital Isolated Acth Deficiency	Hypotension	ORPHA:199296
Post-Traumatic Pituitary Deficiency	Hypotension	ORPHA:95619
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Arrhythmia	ORPHA:2135
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Pancreatitis, Acute colitis	ORPHA:90038
Infantile Neuroaxonal Dystrophy	Cerebellar gliosis, Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl...	ORPHA:733
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Elevated circulating creatinine concentration, Normochro...	ORPHA:247691
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Abnormal pattern of respiration, Hypotension	ORPHA:428
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Broad-based gait, Microcytic anemia	ORPHA:2959
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy	OMIM:604121
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ...	OMIM:612541
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Stevens-Johnson Syndrome	Conjunctivitis, Pancreatitis	ORPHA:36426
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Pneumonia, Hyperkalemia, Breast carcinoma	ORPHA:90790
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Fanconi Anemia, Complementation Group F	Pneumonia, Patent ductus arteriosus, Anemia, Leukopenia, Thrombocytopenia	OMIM:603467
Melas	Hypoparathyroidism, Hypothyroidism, Recurrent pancreatitis	ORPHA:550
Toxic Epidermal Necrolysis	Conjunctivitis, Pancreatitis	ORPHA:537
Aa Amyloidosis	Hypotension	ORPHA:85445
Familial Hypoaldosteronism	Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Bardet-Biedl Syndrome 20	Pancreatitis	OMIM:619471
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato...	OMIM:232240
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytop...	ORPHA:508533
Visceral Myopathy 1	Pancreatitis	OMIM:155310
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:98850
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hypovolemia, Hypotension, Hypocapnia	ORPHA:90794
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Skin rash	ORPHA:220295
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Lysinuric Protein Intolerance	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:222700
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul...	ORPHA:100078
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis	ORPHA:99880
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Basal cell carci...	ORPHA:363618
Pde4D Haploinsufficiency Syndrome	Hypotension	ORPHA:439822
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Erythema nodosum, Splenomegaly, Jaundice, Epididymitis, Myocard...	ORPHA:99827
Vici Syndrome	Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Neutropenia, D...	OMIM:242840
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Asp...	ORPHA:354
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis	ORPHA:143
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Aspiration pneumonia, Ar...	ORPHA:94093
Gaucher Disease, Type Ii	Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm...	OMIM:230900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Decreased circulating antibody level, Squamous cell carcinoma of the s...	ORPHA:79396
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections	OMIM:248500
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Jaundice, Uveitis, Arthritis, Pancrea...	ORPHA:99826
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood...	ORPHA:79404
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	OMIM:151660
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Orofaciodigital Syndrome Ix	Hamartoma, Recurrent aspiration pneumonia	OMIM:258865
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Hellp Syndrome	Pleural effusion, Internal hemorrhage, Hypotension, Cerebral hemorrhage	ORPHA:244242
Oculocutaneous Albinism Type 1B	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Hermansky-Pudlak Syndrome	Epistaxis, Dyspnea, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis...	ORPHA:79430
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Asthma, Heart murmur, Palpitations, Hypotension	ORPHA:100079
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:610651
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granuloma, Infec...	ORPHA:68
Alexander Disease	Sudden cardiac death, Hypotension, Hypertension, Respiratory insufficiency	ORPHA:58
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Chops Syndrome	Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiration pneumonia, ...	OMIM:616368
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal asphyxia, Hypotension	ORPHA:90791
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections	OMIM:214500
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis	OMIM:608594
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Persistent EBV viremia, Severe cytomegalovirus infection, Rec...	OMIM:619573
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis	OMIM:269700
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Juvenile Polyposis Syndrome	Brain abscess, Hypoproteinemia, Anemia	ORPHA:2929
Tay-Sachs Disease	Gliosis, Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy	ORPHA:314404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure...	ORPHA:95455
Immunodeficiency 47	Recurrent bacterial infections, Recurrent infections	OMIM:300972
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Neutral Lipid Storage Myopathy	Hepatomegaly, Hepatic steatosis, Cholecystitis, Chronic pancreatitis	ORPHA:98908
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Hypotension	OMIM:174000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia	OMIM:619167
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Marshall-Smith Syndrome	Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Macrogyria, Strido...	OMIM:602535
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Scorpion Envenomation	Myocarditis, Acute pancreatitis, Hyperhidrosis	ORPHA:466677
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Hypotension	ORPHA:361
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Glycerol Kinase Deficiency	Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Splenomegaly, Gliosis, Aspiration pneumonia, Thrombocytopenia	OMIM:301072
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Upper airway obstr...	ORPHA:581
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hypotension	ORPHA:199299
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Lissencephaly, Pachygyria, Recurrent aspiration pneumonia, Agyria	OMIM:247200
Acute Adrenal Insufficiency	Hypotension, Orthostatic hypotension, Hypovolemia, Myocardial infarction	ORPHA:95409
Mucopolysaccharidosis, Type Vi	Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de...	OMIM:253200
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Non-Functioning Pituitary Adenoma	Hypotension	ORPHA:91349
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
Degcags Syndrome	Pancytopenia, Chronic lung disease, Pneumonia, Congenital hypoplastic anemia, Patent ductus arter...	OMIM:619488
Coffin-Siris Syndrome	Patent ductus arteriosus, Recurrent upper respiratory tract infections, Simplified gyral pattern,...	ORPHA:1465
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly	ORPHA:309282
Cornelia De Lange Syndrome 1	Pneumonia, Thrombocytopenia, Otitis media	OMIM:122470
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Patent ductus arteriosus, Spi...	ORPHA:353281
Gm1 Gangliosidosis Type 1	Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Plague	Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Ente...	ORPHA:707
Yellow Fever	Acute pancreatitis, Pancreatic hyperplasia, Skin rash, Jaundice	ORPHA:99829
Gitelman Syndrome	Respiratory distress, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Sy...	ORPHA:358
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V...	ORPHA:91347
Prolactinoma	Hypotension	ORPHA:2965
Lysosomal Acid Lipase Deficiency	Pulmonary arterial hypertension, Hypovolemia, Hypotension	ORPHA:275761
Tetrasomy 9P	Myositis, Pericarditis, Pilomatrixoma, Arthritis, Lissencephaly, Pulmonary hypoplasia, Pulmonary ...	ORPHA:3310
Bartter Syndrome, Type 3	Hypotension	OMIM:607364
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis	OMIM:606721
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Narcolepsy	ORPHA:293987
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypovolemia, Hypotension	ORPHA:168558
Niemann-Pick Disease Type C	Narcolepsy	ORPHA:646
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypovolemia, Hypotension	ORPHA:289548
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Patent ductus arteriosus, Asthma, Oti...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Patent ductus arteriosus, Asthma, Oti...	ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Asthma, Patent ductus arteriosus, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypert...	ORPHA:444077
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Addison Disease	Orthostatic hypotension, Hypotension	ORPHA:85138
Alström Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h...	ORPHA:64
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Hypertriglyceridemia, Hypoplasia of the thymus, Pneumonia	OMIM:264090
African Trypanosomiasis	Narcolepsy	ORPHA:3385
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Patent ductus arteriosus, ...	ORPHA:438213
Doors Syndrome	Respiratory distress, Capillary hemangioma, Aspiration pneumonia, Thrombocytosis, Polymicrogyria	ORPHA:79500
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93924
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Septic arthritis, Recurrent aspiration pneumonia, Tooth absces...	ORPHA:642
Non-Acquired Panhypopituitarism	Hypotension	ORPHA:90695
Classic Mycosis Fungoides	Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Abnor...	ORPHA:2584
Bartter Syndrome, Type 1, Antenatal	Low-to-normal blood pressure	OMIM:601678
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension	ORPHA:95494
Bartter Syndrome, Type 2, Antenatal	Low-to-normal blood pressure	OMIM:241200
Sézary Syndrome	Cutaneous T-cell lymphoma, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegal...	ORPHA:3162
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Pachygyria, Aspiration pneumonia	OMIM:216340
Pmm2-Cdg	Respiratory distress, Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, Aspiratio...	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tnfrsf1b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tnfrsf1b.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Colitis-induced upregulation of tumor necrosis factor receptor-2 (TNFR2) terminates epithelial regenerative signaling to restore homeostasis.	iScience (September 2023)	Tnfrsf1b^{tm1c(EUCOMM)Wtsi}	PMC10510063
Lung IFNAR1hi TNFR2+ cDC2 promotes lung regulatory T cells induction and maintains lung mucosal tolerance at steady state.	Mucosal immunology (January 2020)	Tnfrsf1b^{tm1c(EUCOMM)Wtsi}	PMC7311323
Chronic Inflammation Increases the Sensitivity of Mouse Treg for TNFR2 Costimulation.	Frontiers in immunology (November 2017)	Tnfrsf1b^{tm1c(EUCOMM)Wtsi} Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	PMC5681910
Transmembrane Tumor Necrosis Factor Controls Myeloid-Derived Suppressor Cell Activity via TNF Receptor 2 and Protects from Excessive Inflammation during BCG-Induced Pleurisy.	Frontiers in immunology (August 2017)	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	PMC5574880
Opposing Functions of Microglial and Macrophagic TNFR2 in the Pathogenesis of Experimental Autoimmune Encephalomyelitis.	Cell reports (January 2017)	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	PMC5218601
Oligodendroglial TNFR2 Mediates Membrane TNF-Dependent Repair in Experimental Autoimmune Encephalomyelitis by Promoting Oligodendrocyte Differentiation and Remyelination.	The Journal of neuroscience : the official journal of the Society for Neuroscience (May 2016)	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	PMC4854972

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Tnfrsf1b^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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