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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased B cell number Tnfrsf1btm1a(EUCOMM)Wtsi HOM Early adult 9.42×10-05
increased circulating total protein level Tnfrsf1btm1a(EUCOMM)Wtsi HOM Early adult 1.42×10-05
decreased locomotor activity Tnfrsf1btm1a(EUCOMM)Wtsi HOM Early adult 1.54×10-06
decreased prepulse inhibition Tnfrsf1btm1a(EUCOMM)Wtsi HOM   Early adult 1.44×10-05
decreased T cell number Tnfrsf1btm1a(EUCOMM)Wtsi HOM Early adult 2.88×10-05

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.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial 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 protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial 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 bacterial infections, Recurrent respiratory infections OMIM:613495
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
C1Q Deficiency
Autoimmunity, Recurrent infections, Systemic lupus erythematosus OMIM:613652
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus, Meningitis OMIM:613790
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity,... ORPHA:90283
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 fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Systemic Lupus Erythematosus 16
Nephritis, Systemic lupus erythematosus OMIM:614420
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre... OMIM:613860
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent infections, Recurrent respiratory infections, Recurrent infection of the ... OMIM:137100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Shock, Respiratory failure, Hypotension, Dyspnea, Vasculitis, Abnormal bloo... ORPHA:70578
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Immunoglobulin A Deficiency 2
Autoimmunity, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections OMIM:609529
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Cardiac arrest, Respiratory failure, Tachypnea, Hypotension, Atel... ORPHA:70587
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 40
Lymphopenia OMIM:616433
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Microlissencephaly
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... ORPHA:1083
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Beta-cell dysfunction OMIM:612227
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Systemic lupus erythematosus OMIM:613779
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Squamous cell carcinoma, Asthma, Verrucae, Recurrent sinusitis, Rec... ORPHA:217390
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackl... ORPHA:2302
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Hypoxemia, Abnormal left... ORPHA:97292
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Disseminated nontuberculous mycobacterial infection, Recurrent mycobacterial infections, Recurren... ORPHA:319552
Immunodeficiency 84
Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections, Meningitis OMIM:615561
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent respiratory infectio... OMIM:618495
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Hypoxemia... ORPHA:79127
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Idiopathic Achalasia
Cough, Wheezing, Recurrent aspiration pneumonia, Decreased prealbumin level, Bronchitis ORPHA:930
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, S... ORPHA:444463
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Arrhythmia, Dyspnea, Palpitations, Respiratory distress, Syncope, Tachycardia ORPHA:464453
Eosinophilopenia
Autoimmunity, Allergic rhinitis OMIM:131430
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia,... OMIM:603554
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:36238
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Isolated Right Ventricular Hypoplasia
Cyanosis, Systolic heart murmur, Hypoxemia, Congestive heart failure, Abnormal atrioventricular c... ORPHA:439
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Hypercholesterolemia, Increased mean cor... ORPHA:90041
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Cough, Dyspnea, Decreased DLCO OMIM:610910
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Respiratory failure, Tachypnea, Dyspnea, Respi... ORPHA:178320
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacteria... OMIM:613493
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Ciliar... OMIM:615294
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count OMIM:618982
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Lissencephaly, Chronic otitis medi... OMIM:619466
Chylous Ascites
Pancreatitis ORPHA:1160
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Facial papilloma, Increased circulating IgG level, Increased circulating ... OMIM:619220
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Pancreatitis, Hepat... OMIM:600803
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Hamartoma, Upper airway obstruction, Respiratory distress, Aspiration pneumonia ORPHA:141152
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Pulmonary Arteriovenous Malformation
Cyanosis, Hypoxemia, Pulmonary hemorrhage, Ischemic stroke, Cough, Myocardial infarction, Dyspnea... ORPHA:2038
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased circulating... OMIM:209950
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Hepatomegaly, Pancreatitis OMIM:243300
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Bronchiectasis, Recurrent b... OMIM:616726
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:615451
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Pachygyria, Polymicrogyria OMIM:609528
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Fatiguable weakness of p... ORPHA:90117
Slc35A1-Cdg
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections OMIM:242850
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Lymphoma, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased... OMIM:300853
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia ORPHA:29073
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Hypoxemia, Crackles, Tachypnea, Respiratory failure, Pleural effus... ORPHA:79126
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Hashimoto thyroidit... ORPHA:275
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Pleural effusion, Bronchiectasis, Dyspnea, ... OMIM:612387
Young Syndrome
Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infection... OMIM:279000
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Asthma, Crackles, Pleural effusio... ORPHA:2902
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Immunodeficiency 75
Hepatosplenomegaly, Lymphoma, Bronchiectasis, Recurrent respiratory infections, Decreased proport... OMIM:619126
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Pneumonia, Asthma, Decreased CD... OMIM:607271
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Intersti... OMIM:610913
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Reduced forced vital capacity, Reduced maximal inspiratory pressure, Respiratory ins... ORPHA:505395
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia, Lethargy ORPHA:99828
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Arrhythmia, Reduced ejection fraction, Respiratory failure, Tachypnea, Pleural effusio... ORPHA:542323
Narcolepsy 7
Narcolepsy OMIM:614250
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:608184
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections OMIM:608106
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carc... ORPHA:65682
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Sjogren Syndrome
Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca, Xer... OMIM:270150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Lymphoma, Chronic... OMIM:614700
Pulmonary Capillary Hemangiomatosis
Cyanosis, Hypoxemia, Diffuse alveolar hemorrhage, Pleural effusion, Dyspnea, Exertional dyspnea, ... ORPHA:199241
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Increased DLC... ORPHA:90060
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Recurrent bronchitis OMIM:612692
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia OMIM:613502
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Squamous cell carcinoma, Decreased cir... OMIM:243700
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic lymphocytic men... OMIM:209920
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased... ORPHA:169160
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity ORPHA:411593
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Recurrent pneumonia, Reduced FEV1/FVC rat... OMIM:611884
Tempi Syndrome
Telangiectasia, Transudative pleural effusion, Intracranial hemorrhage, Hypoxemia ORPHA:284227
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Pericarditis, Antinuclear antibody positivity, Arthritis OMIM:609939
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exertion, Asthma, Crackles, Tac... OMIM:610978
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Perry Syndrome
Hypotension, Central hypoventilation ORPHA:178509
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Chronic pancreatitis OMIM:608189
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Tachypnea, Pn... ORPHA:2257
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615067
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Infectious encephalitis, Cough, Osteomyelitis... ORPHA:1163
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Lymphoma, Splenomeg... OMIM:240500
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Crackles, Cough, Dyspnea, Decreased DLCO ORPHA:747
Tularemia
Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous abscess, Inflammatory abnormality of the eye... ORPHA:3392
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
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Congestive heart failure, Abnormality of blood circulation, Tachypnea, Heart... ORPHA:860
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Hypotension OMIM:156310
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Antinuclear antibody positivity, Systemic lupus erythematosus OMIM:178610
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, He... OMIM:619375
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... OMIM:619632
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent skin infections, Bronchiectasis, Eczema, Recurren... OMIM:618282
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infe... ORPHA:277
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory infections, Neonatal respirator... OMIM:300991
Central Hypoventilation Syndrome, Congenital, 1
Decreased heart rate variability, Hypoventilation, Hypoxemia, Nocturnal hypoventilation, Hypercap... OMIM:209880
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Immunodeficiency 22
Autoimmunity, Recurrent respiratory infections OMIM:615758
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Wheezing, Uppe... ORPHA:3348
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Pulmonary pneumatocele, Recurrent skin infe... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Decreased proportion of C... ORPHA:276
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension OMIM:611489
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Nons... OMIM:619611
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis OMIM:167800
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Cough, Bronchiectasis, Dyspnea, Pulmonary ve... ORPHA:79128
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Lymphoma, ... ORPHA:183675
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respira... OMIM:610921
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Autoimmunity, Minimal change glomerulonephritis OMIM:617006
Nipah Virus Disease
Hypotension, Cough, Respiratory distress ORPHA:99825
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Adult Idiopathic Neutropenia
Recurrent infections, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fu... ORPHA:2688
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Subcorneal Pustular Dermatosis
Autoimmunity, Hypothyroidism, Hyperthyroidism, Systemic lupus erythematosus, Rheumatoid arthritis... ORPHA:48377
Immunodeficiency 31C
Autoimmunity, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic mucocutaneou... OMIM:614162
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Recurrent upper respiratory tract infections, D... OMIM:616100
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Pancreatitis OMIM:618805
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Portal inflammation, Pancreatitis, Hepatocellular carcinoma, Ballooning hepato... OMIM:603471
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Fatigable weakness of bulbar muscl... ORPHA:596
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Congestive heart fai... ORPHA:70591
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Severe infection, Chronic oral ... ORPHA:83471
Systemic Lupus Erythematosus
Lupus nephritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Malar rash, ... OMIM:152700
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Rheu... OMIM:618935
Common Variable Immunodeficiency
Emphysema, Gastrointestinal stroma tumor, Restrictive ventilatory defect, Pneumonia, Lymphoma, Au... ORPHA:1572
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Congestive heart failure, Tachypnea, Respiratory failu... ORPHA:454836
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasis, Ciliary dyskinesia, R... OMIM:613807
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Splenomegaly ORPHA:228312
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Agammaglobulinemia, Cough, Verrucae, Bronchiecta... ORPHA:33110
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Lethargy, Acut... ORPHA:247585
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphadenitis, Lymphoma, Colitis, Autoim... ORPHA:911
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Endocarditi... ORPHA:449280
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Microscopic Polyangiitis
Sinusitis, Autoimmunity, Uveitis, Arthritis, Peritonitis, Increased inflammatory response, Episcl... ORPHA:727
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:615482
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Good Syndrome
Sinusitis, Recurrent skin infections, Cough, Decreased circulating antibody level, Bronchiectasis... ORPHA:169105
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Bronchiectasis, Atelecta... ORPHA:922
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Hypoxemia, Systolic heart murmur, R... ORPHA:555874
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Melioidosis
Pneumonia, Lung abscess, Cutaneous abscess, Parotitis, Prostatitis, Osteoarthritis, Foot osteomye... ORPHA:31202
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Linear Iga Dermatosis
Autoimmunity, Inflammation of the large intestine ORPHA:46488
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, B-cell lymphoma, Bronchiectasis, Recurrent re... OMIM:616005
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Malar rash, Anti-acetylcholine receptor antibody posi... ORPHA:79480
Selective Igm Deficiency
Autoimmunity, Severe infection, Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tr... ORPHA:331235
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Chronic otitis media, Chronic sin... OMIM:604571
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmunity, Recurrent Staphylococcus aureus infections, Recurrent viral infections, Autoimmune ... ORPHA:572
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Recurrent bronchitis, Bronchiectasis, Recurrent s... OMIM:617091
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Lymphoma, Autoimmune thromboc... OMIM:613179
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Mitral stenosis, Hypoxemia, Palpitations ORPHA:2847
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningitis, Recurrent Haemophilus influenzae infections, Recurr... OMIM:610984
Bullous Pemphigoid
Autoimmunity, Recurrent infections ORPHA:703
Fusariosis
Maculopapular exanthema, Productive cough, Fasciitis, Keratitis, Lymphopenia, Hypersensitivity pn... ORPHA:228119
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly OMIM:608600
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, K... OMIM:618523
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Inhalational Anthrax
Internal hemorrhage, Hypotension, Respiratory distress, Dyspnea ORPHA:247257
Pulmonary Alveolar Microlithiasis
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on ... ORPHA:60025
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Panhypogammaglobulinemia, Otitis media, ... OMIM:602450
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Increased circulating myelocyte count, Tachypnea, ... ORPHA:36234
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Eczematoid dermatitis, Aplasi... OMIM:242700
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Bronchiectasis, Productive cough,... OMIM:618699
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Atrial flutter, Reduced ejection fraction, Sy... ORPHA:980
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Jaundice ORPHA:676
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Maculopapular exanthema, Endocarditis, Myo... ORPHA:31205
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Autoimmune thrombocytopenia, Recurrent respiratory infections, Recurrent infections OMIM:614470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pneumonia, Sinusit... OMIM:102700
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Cardiogenic shock, Hypotension, Dyspnea, Bronchospasm, Ri... ORPHA:97287
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, M... ORPHA:169090
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613496
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:615952
Systemic Capillary Leak Syndrome
Arrhythmia, Hypotension, Pleural effusion, Cough, Rhinorrhea, Myocarditis, Cardiorespiratory arre... ORPHA:188
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... OMIM:242860
Yellow Nail Syndrome
Sinusitis, Renal neoplasm, Sarcoma, Biliary tract neoplasm, Cough, Neoplasm, Bronchiectasis, Dysp... ORPHA:662
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia ORPHA:369873
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Colitis, Splenomegaly, Hepatomegaly, Pancreatitis OMIM:615947
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, Premature ventricular contraction, Hypercapnia, High-output congestive h... ORPHA:423
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
X-Linked Lymphoproliferative Disease
Pancytopenia, Increased circulating ferritin concentration, T lymphocytopenia, Hepatosplenomegaly... ORPHA:2442
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Pneumon... OMIM:600903
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Lethargy, Elevated circulating creatine kinase concentration, Incr... ORPHA:26793
Snakebite Envenomation
Cardiogenic shock, Respiratory failure, Hypotension, Myocardial infarction, Respiratory paralysis... ORPHA:449285
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent fungal infections, Rec... OMIM:147060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Recurrent upper respiratory tract infection... OMIM:600802
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic adenocarcinom... ORPHA:103918
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Hypotension, Dyspnea, Hypertension, Respiratory di... ORPHA:330021
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Immunodeficiency 58
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis, Cutaneous ... OMIM:618131
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Bronchiectasis, Recurrent bronchitis, Ciliary dyskin... OMIM:244400
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Decreased circul... OMIM:601495
Renal Tubular Dysgenesis
Respiratory insufficiency, Hypotension OMIM:267430
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Juvenile rhe... ORPHA:85414
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Infectious encephalitis, Recurrent bacterial infections, Meningitis, Ente... OMIM:307200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Gliosis, Pneumonia OMIM:608033
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233710
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Restrictive ventilatory defect, Aspiratio... OMIM:164310
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Pancreatitis ORPHA:135
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Cholangitis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615207
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Familial Multinodular Goiter
Colorectal polyposis, Medulloepithelioma, Sertoli cell neoplasm, Testicular seminoma, Ovarian neo... ORPHA:276399
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis OMIM:251000
Legionnaires Disease
Infectious encephalitis, Endocarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Pancreatit... ORPHA:549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Lymphoma, Decreased proportion of CD4-positive help... ORPHA:443811
Bloom Syndrome
Decreased circulating IgG level, Uveitis, Lymphoma, Neoplasm of the breast, Neoplasm of the skin,... ORPHA:125
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent gram-negative bact... OMIM:116920
Hydroxykynureninuria
Tachycardia, Hypotension, Breathing dysregulation ORPHA:79155
Sickle Cell Anemia
Hypertension, Hypoxemia OMIM:603903
Timothy Syndrome
Hypocalcemia, Patent ductus arteriosus, Pneumonia, Bronchitis OMIM:601005
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Recurrent Aspergillus infections... OMIM:233690
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Pneumonia, Lymphoma, Splenomegaly, An... ORPHA:39041
Achondroplasia
Obstructive sleep apnea, Hypoxemia, Central sleep apnea, Restrictive ventilatory defect ORPHA:15
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Eisenmenger Syndrome
Right-to-left shunt, Hypoxemia, Left-to-right shunt, Increased pulmonary vascular resistance, Rig... ORPHA:97214
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia, Facial capillary hemangioma OMIM:300209
Placental Insufficiency
Hypoxemia ORPHA:439167
Graft Versus Host Disease
Myositis, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Hemophagocytosis, Inflamm... ORPHA:39812
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Cough, Bronchiec... OMIM:619468
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Cardiore... OMIM:212138
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomato... ORPHA:79665
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Gastrointestinal hemorrhage, Nail bed telangiectasia, Telangiectasia of the skin, Gast... OMIM:187300
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Microsporidiosis
Sinusitis, Myositis, Pneumonia, Lymphadenitis, Cholangitis, Infectious encephalitis, Peritonitis,... ORPHA:2552
Neuroendocrine Tumor Of The Colon
Hypotension, Bronchospasm, Melena, Right ventricular failure, Palpitations, Tricuspid regurgitati... ORPHA:100080
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:2348
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia ORPHA:2315
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Primary Sclerosing Cholangitis
Cholelithiasis, Autoimmunity, Uveitis, Portal hypertension, Cholestasis, Hepatosplenomegaly, Chol... ORPHA:171
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Antimitochondrial antibody positivity... ORPHA:562639
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Pancreatitis, Iridocyclitis ORPHA:412057
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis, Cirrhosis ORPHA:79083
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Skin rash ORPHA:90036
Propionic Acidemia
Eczema, Hepatomegaly, Pancreatitis OMIM:606054
Pauci-Immune Glomerulonephritis
Scleritis, Glomerulonephritis, Tubulointerstitial nephritis, Arteritis, Crescentic glomerulonephr... ORPHA:93126
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Scrub Typhus
Restrictive ventilatory defect, Hypotension, Cough, Myocarditis, Dyspnea ORPHA:83317
Acquired Generalized Lipodystrophy
Autoimmunity, Acute pancreatitis, Hepatic steatosis, Hepatomegaly, Panniculitis, Cirrhosis ORPHA:79086
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Interstitial pneumonitis, Decreased circulating I... OMIM:614878
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Recurrent infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sys... ORPHA:760
Maple Syrup Urine Disease
Pancreatitis OMIM:248600
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Telangiectasia of the skin, Hypotension, Dyspnea ORPHA:79455
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Autoimmunity, Hypothyroidism, Portal hypertension, Hepatosplenomegaly, Cholangitis, Anti-thyroid ... ORPHA:228426
Sickle Cell Anemia
Hypoxemia ORPHA:232
Rh Deficiency Syndrome
Tachycardia, Tachypnea, Hypoxemia ORPHA:71275
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial ... ORPHA:139402
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Splenomegaly, Pancreatitis ORPHA:90970
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Infant Botulism
Cardiac arrest, Hypotension, Dyspnea, Respiratory insufficiency due to muscle weakness, Hypertension ORPHA:178478
Brucellosis
Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess, Hypersplenism, Thrombocytop... ORPHA:1304
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, ... ORPHA:420741
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar muscles, Recurrent... ORPHA:98897
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Crackles, Tachypnea, Hypotension, Hy... ORPHA:466650
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Minimal change glomerulonephritis, Abnormality of thyroid physiology, Pancreatitis ORPHA:1830
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Bronchospasm, Melena, Right ventricular failure, Palpitations, Tricusp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Bronchospasm, Melena, Right ventricular failure, Palpitations, Tricusp... ORPHA:100082
Igg4-Related Kidney Disease
Urinary bladder inflammation, Sclerosing cholangitis, Lymphadenitis, Rheumatoid factor positive, ... ORPHA:449395
Erythrocytosis, Familial, 2
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage OMIM:263400
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Astr... ORPHA:204
Q Fever
Hepatosplenomegaly, Pneumonia, Infectious encephalitis, Maculopapular exanthema, Cholecystitis, S... ORPHA:781
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections OMIM:619693
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
Nocardiosis
Scleritis, Productive cough, Liver abscess, Keratitis, Conjunctivitis, Emphysema, Infectious ence... ORPHA:31204
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hamartoma OMIM:300484
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Anomalous pulmonary venous return, ... ORPHA:244
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Igg4-Related Thyroid Disease
Autoimmunity, Hypothyroidism, Thyrotoxicosis with diffuse goiter, Sclerosing cholangitis, Hashimo... ORPHA:64744
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Hyperlipoproteinemia, Type I
Pancreatitis, Hepatosplenomegaly, Jaundice, Splenomegaly OMIM:238600
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Squamous cell carcinoma of the skin, Thrombocytopenia, Anemia, Myelodys... OMIM:127550
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Ventricular tachycardia, Arrhythmia, Hypotension, Cardiomyopathy, Sudden episodic apnea... ORPHA:159
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Interstitial Lung And Liver Disease
Respiratory insufficiency, Dyspnea, Hypoxemia, Cough OMIM:615486
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Uveitis, Knee osteoarthritis, Rheumatoid arthritis, Oligoarthritis, Antinuclear ant... ORPHA:85410