Gene: Sftpd MGI:109515

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

surfactant associated protein D

Synonyms:

Sftp4, SP-D, Sfpd

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sftpd 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 Sftpd (0 diseases)
Human diseases predicted to be associated with Sftpd (842 diseases)

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

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

Disease	Matching phenotypes	Source
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Idiopathic Bronchiectasis	Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Productive cough, ...	ORPHA:60033
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope...	OMIM:618986
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ...	OMIM:242700
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva...	OMIM:178500
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope...	OMIM:226990
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia,...	OMIM:607616
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p...	ORPHA:47612
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Plasmacytosis, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu...	OMIM:616371
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Sarcoidosis, Susceptibility To, 2	Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ...	OMIM:612387
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthrit...	OMIM:619510
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu...	OMIM:178550
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur...	OMIM:269840
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chronic pulmonary obstruction...	ORPHA:1163
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Crackles, Increased circulating ferritin concentration, Dyspnea, Hepa...	ORPHA:210136
Tuberculosis	Cough, Abnormal lung morphology, Weight loss	ORPHA:3389
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Immunodeficiency 104	Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid...	OMIM:608971
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi...	ORPHA:79124
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon...	OMIM:300400
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Decreased DLCO, B...	OMIM:614742
Scedosporiosis	Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni...	ORPHA:449280
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Hypophosphatasia	Respiratory insufficiency, Emphysema, Failure to thrive in infancy, Anemia	ORPHA:436
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight...	ORPHA:90060
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Atelectasis, Leukocytosis, Incre...	ORPHA:2902
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto...	ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ...	OMIM:601457
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu...	OMIM:617514
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula...	OMIM:619644
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove...	ORPHA:723
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m...	OMIM:616022
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Failure to thrive, Myositis, Skin rash, Elevated circulating C-...	OMIM:615934
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis...	OMIM:611926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti...	ORPHA:254361
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dys...	ORPHA:99931
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int...	OMIM:616414
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recu...	OMIM:300635
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia	OMIM:620365
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati...	OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit...	OMIM:617638
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis...	ORPHA:397596
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee...	ORPHA:79128
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o...	OMIM:607594
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C...	OMIM:612852
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneum...	ORPHA:169160
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul...	ORPHA:33355
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Restrictive ventilatory defect, Erysipelas, Elevated circulating creatine kinase concentration, P...	OMIM:615704
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec...	ORPHA:634
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Pneumocystis carinii pneumonia...	OMIM:620321
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi...	OMIM:617241
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Pulmonary fibrosis, Myeloid...	OMIM:614743
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral...	ORPHA:217390
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Splenomegaly, Dyspnea, Meningitis, Uveitis, Restrictive ventilatory defe...	ORPHA:36412
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote...	ORPHA:1302
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Failure to thrive, Sinus...	ORPHA:229717
Riddle Syndrome	Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infe...	ORPHA:420741
Acute Lung Injury	Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu...	ORPHA:178320
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis	OMIM:619549
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R...	OMIM:306400
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Failure to thrive, Anisocyto...	OMIM:618278
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Nocardiosis	Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, ...	ORPHA:31204
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c...	OMIM:308240
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Dyspnea, Iridocyclitis, Bronchiecta...	OMIM:181000
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce...	ORPHA:81
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Absent ...	OMIM:620282
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol...	ORPHA:47
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron...	OMIM:618108
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura...	OMIM:608233
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Interstitial Lung And Liver Disease	Dyspnea, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation, Res...	OMIM:615486
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr...	OMIM:618165
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat...	ORPHA:36238
Polymyositis	Pericarditis, Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial...	ORPHA:732
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening...	ORPHA:464370
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Failure to thrive, Pulmonary fibr...	ORPHA:52047
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon...	OMIM:615122
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Hermansky-Pudlak Syndrome 4	Epistaxis, Absent platelet dense granules, Pulmonary fibrosis, Restrictive ventilatory defect	OMIM:614073
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Dyspnea, Myocarditi...	ORPHA:809
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatospleno...	OMIM:619013
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Abnormal pulmonary intersti...	OMIM:620233
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Pulmonary fibrosis	ORPHA:220402
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Neutr...	OMIM:613989
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a...	ORPHA:264675
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt...	ORPHA:3392
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi...	OMIM:606367
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urina...	OMIM:618495
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infection, Nonproductive c...	ORPHA:60025
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respiratory insufficiency, R...	OMIM:607625
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Impaired T cell function, Pure red cel...	OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Pneumothora...	ORPHA:411703
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema	OMIM:219100
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent...	OMIM:612444
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ...	OMIM:619752
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B...	OMIM:619126
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu...	ORPHA:183675
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Recurrent infections, Bronchiectasis, Decreased bod...	ORPHA:477814
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi...	OMIM:619652
Microlissencephaly	Pneumonia	ORPHA:1083
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le...	ORPHA:3226
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp...	OMIM:614868
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Pulmonary fibrosis	ORPHA:457240
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circul...	OMIM:602450
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ...	OMIM:240500
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscula...	OMIM:127550
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Pust...	ORPHA:29207
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Rhin...	ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Decre...	OMIM:613990
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymph...	OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym...	OMIM:102700
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro...	OMIM:603554
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Abnormal pulmonary i...	ORPHA:217563
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Weight loss, Xanth...	ORPHA:35687
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Q Fever	Respiratory distress, Cholecystitis, Cough, Meningitis, Infectious encephalitis, Maculopapular ex...	ORPHA:781
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu...	OMIM:615468
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia	OMIM:619057
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu...	OMIM:615482
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Follicular Lymphoma	Splenomegaly, Pleural effusion, Meningitis, Weight loss	ORPHA:545
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Anem...	OMIM:603552
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Typhoid	Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infectious...	ORPHA:99745
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Leukocytosis...	ORPHA:3260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis...	OMIM:615207
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration, Elevated c...	ORPHA:93672
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax	OMIM:614816
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Tachypnea, Abnormal ...	OMIM:613658
Congenital Myopathy 21 With Early Respiratory Failure	Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur...	OMIM:620326
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:300991
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, ...	ORPHA:292
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Emphysema, Failure to thrive, Abnormal circulating apolipoprotein concentration	ORPHA:357074
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Emphysema, Abnormality of the pulmonary artery, Hypertriglyceridemia	ORPHA:363618
Bronchial Neuroendocrine Tumor	Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morpho...	ORPHA:97287
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col...	ORPHA:37042
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola...	ORPHA:747
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Spl...	ORPHA:829
Hermansky-Pudlak Syndrome	Epistaxis, Dyspnea, Weight loss, Pulmonary fibrosis, Neutropenia	ORPHA:79430
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Overlap Myositis	Elevated circulating creatine kinase concentration, Severe infection, Abnormal pulmonary intersti...	ORPHA:206572
Omenn Syndrome	Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Eryt...	ORPHA:39041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au...	OMIM:616100
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo...	OMIM:244400
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Immunodeficiency 40	Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic...	OMIM:616433
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Small for gestational age, Emphysema, Tracheobronchomalacia, Fa...	OMIM:616835
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Weight loss, Thy...	ORPHA:139402
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati...	ORPHA:70578
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:608644
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Invasive parasitic infection, Eosinophilia, Abscess, Un...	ORPHA:400
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology...	OMIM:617050
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough...	ORPHA:188
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno...	ORPHA:221
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In...	ORPHA:2314
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia...	OMIM:619708
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Acute colitis, Dyspnea, Leukocytosis, Weight loss, Hypoalbuminemia, ...	ORPHA:67
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit...	ORPHA:797
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo...	ORPHA:99867
Immunodeficiency 23	Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG...	OMIM:615816
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613807
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ...	OMIM:214500
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome...	OMIM:615387
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto...	ORPHA:2070
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia	OMIM:224230
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi...	OMIM:613177
Primary Intestinal Lymphangiectasia	Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Weight loss, Decrease...	ORPHA:90362
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Diffuse Cutaneous Systemic Sclerosis	Dyspnea, Arthritis, Pulmonary fibrosis, Pulmonary arterial hypertension	ORPHA:220393
Bloom Syndrome	Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased...	ORPHA:125
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary interstitial mo...	OMIM:230800
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Exertional dyspnea, Weight loss	ORPHA:100083
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Chronic infection, Leukoc...	ORPHA:520
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, 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
Pfapa Syndrome	Splenomegaly, Recurrent pharyngitis, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis...	ORPHA:171876
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Abnormal lung morphology, We...	ORPHA:767
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr...	ORPHA:1304
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Dyspnea,...	ORPHA:85443
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa...	OMIM:619858
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Ellis Van Creveld Syndrome	Aplasia/Hypoplasia of the lungs, Emphysema, Failure to thrive, Acute leukemia	ORPHA:289
Kaposi Sarcoma	Recurrent herpes, Skin rash, Abnormality of the spleen, Abnormal lung morphology, Weight loss	ORPHA:33276
Hermansky-Pudlak Syndrome 1	Epistaxis, Restrictive ventilatory defect, Inflammation of the large intestine, Colitis, Pulmonar...	OMIM:203300
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpho...	ORPHA:77259
Immunodeficiency 108 With Autoinflammation	Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent absces...	OMIM:260570
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I...	OMIM:615285
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He...	ORPHA:39812
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke...	OMIM:617321
De Barsy Syndrome	Recurrent sinopulmonary infections, Emphysema, Failure to thrive	ORPHA:2962
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Unusual skin infection...	ORPHA:31202
Immunodeficiency 77	Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru...	OMIM:619223
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia...	OMIM:618253
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Respiratory insufficiency, Weight loss, Failure to thrive, Anemia	ORPHA:1842
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir...	ORPHA:158048
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-bl...	OMIM:257200
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss, Abnormal pulmonary interstitial morphology, Pulmonary edema	ORPHA:330001
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo...	ORPHA:227990
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia	ORPHA:100024
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613808
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome...	OMIM:301078
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,...	ORPHA:540
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in...	ORPHA:169090
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc...	ORPHA:90291
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo...	ORPHA:227982
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Neoplasm of the lung, Strid...	ORPHA:142
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,...	ORPHA:811
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,...	ORPHA:90349
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Abnormal pu...	ORPHA:206569
Keutel Syndrome	Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sinusitis, Perip...	OMIM:245150
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv...	ORPHA:449400
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast...	OMIM:301074
Fabry Disease	Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Emp...	ORPHA:324
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Neonatal Marfan Syndrome	Neonatal respiratory distress, Emphysema, Small for gestational age, Hypoxemia	ORPHA:284979
Gaucher Disease	Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Thrombocytope...	ORPHA:355
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter...	OMIM:620296
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni...	ORPHA:289390
Kikuchi-Fujimoto Disease	Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Thrombocytopenia, Sple...	ORPHA:50918
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi...	ORPHA:77297
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Pulmonary fibrosis	OMIM:612199
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis	OMIM:300219
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Eosino...	ORPHA:183
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen...	ORPHA:98850
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema, Failure to thrive, Small for gestational age	OMIM:224690
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly...	ORPHA:2072
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto...	ORPHA:98848
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm	OMIM:614437
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intraalveolar phosp...	OMIM:222700
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Stevens-Johnson Syndrome	Recurrent respiratory infections, Abnormal pleura morphology, Abnormality of neutrophils, Thrombo...	ORPHA:36426
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer cell activity, Increased ci...	OMIM:603553
Classic Hodgkin Lymphoma	Skin rash, Splenomegaly, Respiratory insufficiency, Weight loss, Bone marrow hypocellularity, Cough	ORPHA:391
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor...	ORPHA:77261
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Classic Pantothenate Kinase-Associated Neurodegeneration	Cough, Aspiration pneumonia, Weight loss	ORPHA:216866
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Desmoplastic Small Round Cell Tumor	Neoplasm of the lung, Cachexia, Anemia, Weight loss	ORPHA:83469
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Sepsis, N...	ORPHA:2552
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,...	ORPHA:558
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Sepsis...	ORPHA:537
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti...	OMIM:613470
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Restrictive ventilatory defect, Conjunc...	OMIM:305000
Lujo Hemorrhagic Fever	Respiratory distress, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein...	ORPHA:319213
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Dyspnea, Weight loss, Abnormal spleen m...	ORPHA:284
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im...	OMIM:618063
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia, E...	ORPHA:514
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Rhabdoid Tumor	Thrombocytopenia, Respiratory insufficiency, Anemia, Weight loss	ORPHA:69077
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis	ORPHA:309288
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration	OMIM:253700
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, Psoriasiform d...	ORPHA:293978
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	OMIM:267700
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom...	ORPHA:533
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections	OMIM:618648
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur...	ORPHA:204
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis, Cough	OMIM:619468
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Autosomal Dominant Cutis Laxa	Bronchiectasis, Pyelonephritis, Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis	ORPHA:90348
Whipple Disease	Myositis, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Respiratory insufficiency, Uveitis, ...	ORPHA:3452
Timothy Syndrome	Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections	OMIM:601005
Diarrhea 12, With Microvillus Atrophy	Respiratory tract infection, Bronchiectasis	OMIM:619445
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,...	ORPHA:26793
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Weight loss, Keratoconjunctivitis, Thrombocytopenia, Per...	ORPHA:79242
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Respiratory insufficiency	ORPHA:702
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology, Elevated circulating creatine kinase concentration	ORPHA:353
Mirage Syndrome	Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A...	OMIM:617053
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Shigellosis	Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leukocytosis, Perit...	ORPHA:810
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Acute colitis...	ORPHA:544482
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu...	ORPHA:2905
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Failure to thrive in infancy, Secretory IgA deficiency, Recurrent infec...	ORPHA:500150
Lysinuric Protein Intolerance	Hypertriglyceridemia, Glomerulonephritis, Increased circulating ferritin concentration, Thrombocy...	ORPHA:470
Nephroblastoma	Neoplasm of the lung, Weight loss	ORPHA:654
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urina...	ORPHA:221139
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir...	OMIM:612541
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Weight loss,...	ORPHA:29073
Hennekam-Beemer Syndrome	Mastocytosis, Failure to thrive, Pneumonia, Respiratory insufficiency	ORPHA:2135
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Recurrent bronchitis,...	OMIM:208900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss	ORPHA:86893
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy

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