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 (821 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	Chronic pulmonary obstruction, Chronic bronchitis, Emphysema	OMIM:130700
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Idiopathic Bronchiectasis	Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower...	ORPHA:60033
Allergic Bronchopulmonary Aspergillosis	Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas...	ORPHA:1164
Bronchopulmonary Dysplasia	Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog...	ORPHA:70589
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Wheezing, C...	OMIM:613490
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti...	ORPHA:79127
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe...	OMIM:618986
Bare Lymphocyte Syndrome, Type I	Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis	OMIM:604571
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Immunodeficiency 89 And Autoimmunity	Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C...	OMIM:619632
Chronic Beryllium Disease	Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Respira...	ORPHA:133
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Apl...	OMIM:242700
Interstitial Lung Disease 2	Increased circulating antibody level, Alveolar cell carcinoma, Cough, Decreased DLCO, Usual inter...	OMIM:178500
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Immunodeficiency 11	Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections	OMIM:615206
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Pulmonary Blastoma	Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss	ORPHA:64741
Felty Syndrome	Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Splenomegaly, Recurrent...	ORPHA:47612
Idiopathic Achalasia	Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss	ORPHA:930
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n...	OMIM:613101
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Abnormal pulmonary interstitial morphology, Decreased DLCO,...	OMIM:607616
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Co...	OMIM:616371
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3	Reduced forced expiratory volume in one second, Decreased DLCO, Reduced forced vital capacity, Us...	OMIM:616373
Sarcoidosis, Susceptibility To, 2	Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomeg...	OMIM:612387
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc...	OMIM:618394
Idiopathic Pulmonary Fibrosis	Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,...	ORPHA:2032
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Re...	OMIM:619510
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Plasmacytosis, Cough, Nodular pattern on pulmonary HRCT	ORPHA:60026
Immunodeficiency 48	Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogamm...	OMIM:269840
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti...	OMIM:610921
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis, Iron deficien...	OMIM:178550
Aspergillosis	Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func...	ORPHA:1163
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o...	OMIM:613501
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu...	OMIM:610913
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Hepatosplenomegaly, Crackles, Abnormal pleura morph...	ORPHA:210136
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc...	OMIM:601457
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr...	OMIM:266265
Immunodeficiency 104	Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni...	OMIM:608971
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Pancytopenia, Recurren...	ORPHA:79124
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Usual interstitial pneumonia, Crackles, Aplastic anemia, Myeloid leukemia, Reticular pattern on p...	OMIM:614742
Cystic Hamartoma Of Lung And Kidney	Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections	ORPHA:2111
Hypophosphatasia	Respiratory insufficiency, Anemia, Failure to thrive in infancy, Emphysema	ORPHA:436
Scedosporiosis	Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure...	ORPHA:449280
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul...	OMIM:300400
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg...	OMIM:618935
Common Variable Immunodeficiency	Lymphopenia, Emphysema, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis m...	ORPHA:1572
Caspase 8 Deficiency	Failure to thrive, Decreased circulating IgA level, Asthma, Decreased circulating IgG level, Recu...	OMIM:607271
Diffuse Alveolar Hemorrhage	Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on...	ORPHA:90060
Immunodeficiency 52	Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo...	OMIM:617514
Immunodeficiency 91 And Hyperinflammation	Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago...	OMIM:619644
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ...	OMIM:312863
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level, Increased alpha-globulin, Recurrent infections	OMIM:235900
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc...	OMIM:245480
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO	OMIM:618913
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent...	OMIM:616022
Acute Interstitial Pneumonia	Interlobular septal thickening, Elevated circulating C-reactive protein concentration, Subpleural...	ORPHA:79126
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Lymphopenia, Increased ...	OMIM:615934
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Pneumocystosis	Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem...	ORPHA:723
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ...	OMIM:247800
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Colitis, Folliculitis, Hemophagocytosis, Splenomega...	OMIM:300635
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles, Reticular pat...	ORPHA:99931
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia	OMIM:615214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Recurrent infections, Chronic bronchitis, Pneumonia	OMIM:614069
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Hemosiderin-laden ma...	OMIM:616414
Immunodeficiency 50	Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne...	OMIM:300988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent candida infections, Increased circulating antibody level, Lymphopenia, Decreased circul...	ORPHA:169160
Immunodeficiency 13	Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf...	OMIM:615518
Lymphoid Interstitial Pneumonia	Failure to thrive, Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pu...	ORPHA:79128
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Respiratory distress, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutr...	OMIM:612852
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss	ORPHA:141152
Reticular Dysgenesis	Failure to thrive, Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophil...	ORPHA:33355
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:618806
Idiopathic Chronic Eosinophilic Pneumonia	Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,...	ORPHA:2902
Asbestos Intoxication	Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit...	ORPHA:2302
Netherton Syndrome	Asthma, Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Emphysema,...	ORPHA:634
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ...	ORPHA:217390
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia, Pulmonary...	OMIM:614743
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C...	OMIM:619802
Hypocomplementemic Urticarial Vasculitis	Airway obstruction, Skin rash, Splenomegaly, Recurrent bacterial infections, Arthritis, Cough, Me...	ORPHA:36412
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased ...	OMIM:617241
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp...	OMIM:619220
Acute Lung Injury	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:178320
Isolated Agammaglobulinemia	Failure to thrive, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte morphology, Ar...	ORPHA:229717
Immunodeficiency 11B With Atopic Dermatitis	Asthma, Eosinophilia, Atopic dermatitis, Pneumonia	OMIM:617638
Cryptogenic Organizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc...	ORPHA:1302
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Exertional dyspnea, Elevated circulating creatine kinase concentration, Pulmonary ...	ORPHA:254361
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Elevated circulating creatine kinase concentration, Pulmonary fibrosis, Erysipelas	OMIM:615704
Riddle Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe...	ORPHA:420741
Immunodeficiency 86	Increased circulating IgM level, BCGitis, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection...	ORPHA:276
Immunodeficiency 14A, Autosomal Dominant	Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,...	OMIM:615513
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Nocardiosis	Keratitis, Respiratory distress, Unusual CNS infection, Lymphadenitis, Sepsis, Pneumonia, Pericar...	ORPHA:31204
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob...	ORPHA:1303
Immunodeficiency 102	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym...	OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos...	OMIM:308240
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Iridocyclitis, Elevated bronchoalveolar lavage fluid lympho...	OMIM:181000
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt...	OMIM:619281
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r...	OMIM:263000
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria...	OMIM:193670
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas...	OMIM:613502
Immunodeficiency 32B	Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i...	OMIM:226990
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Benign Cephalic Histiocytosis	Histiocytosis, Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Immunodeficiency 46	Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l...	OMIM:616740
Antisynthetase Syndrome	Skin rash, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Myositi...	ORPHA:81
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Gastritis, Skin rash, Chronic lung disease, B lymphocytopenia, T lymphocytopen...	OMIM:618108
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc...	ORPHA:36238
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Periodontitis, Chronic oral candidiasis, Recurrent otitis media...	OMIM:608233
Interstitial Lung Disease 1	Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ...	OMIM:619611
X-Linked Agammaglobulinemia	Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Sepsis, Chronic otitis media, Arthritis, ...	ORPHA:47
Interstitial Lung And Liver Disease	Failure to thrive, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Abnormal p...	OMIM:615486
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel...	OMIM:618982
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Cough, Abnormal lung morphology, Pleural effusi...	ORPHA:50251
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum...	ORPHA:464370
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Polymyositis	Respiratory insufficiency, Elevated circulating creatine kinase concentration, Abnormal pulmonary...	ORPHA:732
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis, Epistaxis, Restrictive ventilatory defect, Abnormal platelet granules	OMIM:614073
Braddock Syndrome	Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Pulmonary fibr...	ORPHA:52047
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo...	OMIM:610978
Lymphoproliferative Syndrome 2	EBV meningitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, Seve...	OMIM:615122
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic...	OMIM:300755
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp...	OMIM:233710
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia, Failure to thrive	OMIM:609528
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati...	ORPHA:572
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Failure to thrive, Decreased circulating IgG level, Leukocytos...	OMIM:618278
Omenn Syndrome	Failure to thrive, Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypo...	OMIM:603554
Cystic Fibrosis	Decreased circulating antibody level, Pulmonary fibrosis, Recurrent respiratory infections	ORPHA:586
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventil...	OMIM:610910
Mixed Connective Tissue Disease	Gastritis, Skin rash, Splenomegaly, Leukopenia, Myositis, Myocarditis, Abnormal pulmonary interst...	ORPHA:809
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni...	OMIM:614700
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp...	OMIM:233690
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypertriglyceridemia, Micr...	OMIM:619013
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,...	ORPHA:95430
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D...	OMIM:618042
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Pulmonary fibrosis	ORPHA:220402
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Desquamative interstitial pneumonitis, Hepa...	OMIM:615952
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Papular Xanthoma	Histiocytosis	ORPHA:158008
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Granulomatous Disease, Chronic, X-Linked	Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der...	OMIM:306400
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Failure to thrive, Recurrent otitis media, Lymphopenia, Recurrent upper respiratory tract infecti...	OMIM:600802
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas...	ORPHA:319552
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti...	ORPHA:911
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Weight loss, ...	ORPHA:54251
Immunodeficiency 64	Failure to thrive, Decreased circulating IgG level, Increased circulating IgA level, Defective T ...	OMIM:618534
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema	OMIM:219100
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Interlobular septal thickening, Increased pulmonary vascular res...	ORPHA:60025
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	Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni...	ORPHA:33110
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellul...	OMIM:613989
Granulomatosis With Polyangiitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Otitis media, Increased infl...	ORPHA:900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+...	OMIM:606367
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac...	ORPHA:264675
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, De...	OMIM:243700
Autosomal Dominant Severe Congenital Neutropenia	Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio...	ORPHA:486
Immunodeficiency, Common Variable, 12, With Autoimmunity	Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Atr...	OMIM:616576
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ...	OMIM:613179
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr...	ORPHA:183675
Tularemia	Respiratory distress, Increased circulating antibody level, Conjunctivitis, Leukocytosis, Otitis ...	ORPHA:3392
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe...	OMIM:618495
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ...	OMIM:619752
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Immunodeficiency 92	Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L...	OMIM:619652
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia	ORPHA:517
Thymic Aplasia	Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,...	ORPHA:83471
Ciliary Dyskinesia, Primary, 9	Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus...	OMIM:612444
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:613500
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Splenomegaly, Respiratory insufficiency, Neonatal respiratory distress, B...	OMIM:607625
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Gastritis, Uveitis, Bone marrow hypocellularity, Ret...	ORPHA:3261
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Surfactant Metabolism Dysfunction, Pulmonary, 5	Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio...	OMIM:614370
Immunodeficiency 75	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurr...	OMIM:619126
Cd8 Deficiency, Familial	Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi...	OMIM:608957
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Chronic pulmonary obstruction, Mycobacterium abscessus abscessus infection,...	ORPHA:411703
Microlissencephaly	Pneumonia	ORPHA:1083
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ...	OMIM:300770
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abnormal neutrophi...	ORPHA:3226
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas...	ORPHA:167
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ...	OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi...	OMIM:618282
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tra...	OMIM:608184
Surfactant Metabolism Dysfunction, Pulmonary, 1	Interlobular septal thickening, Failure to thrive, Apnea, Desquamative interstitial pneumonitis, ...	OMIM:265120
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Pan...	OMIM:601495
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o...	OMIM:240500
Trimethylaminuria	Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly	OMIM:602079
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell recept...	OMIM:602450
Dyskeratosis Congenita, Autosomal Dominant 1	Lymphopenia, Interstitial pneumonitis, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thro...	OMIM:127550
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Pulmonary fibrosis	ORPHA:457240
Slc35A1-Cdg	Respiratory distress, Pulmonary hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, T...	ORPHA:238459
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Bare Lymphocyte Syndrome, Type Ii	Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf...	OMIM:209920
Ciliary Dyskinesia, Primary, 44	Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu...	OMIM:618781
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytope...	OMIM:242860
Leukocyte Adhesion Deficiency	Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow...	ORPHA:2968
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Dyspnea, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Multicentric Reticulohistiocytosis	Histiocytosis, Cachexia, Arthritis	ORPHA:139436
Leishmaniasis	Increased circulating antibody level, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage mor...	ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp...	OMIM:608898
Selective Igm Deficiency	Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma...	ORPHA:331235
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail...	ORPHA:90117
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula...	ORPHA:169154
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy...	OMIM:607624
Ciliary Dyskinesia, Primary, 23	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,...	OMIM:615451
Reactive Arthritis	Osteomyelitis, Conjunctivitis, Pustule, Respiratory insufficiency, Recurrent urinary tract infect...	ORPHA:29207
Hereditary Mucoepithelial Dysplasia	Pulmonary fibrosis, Recurrent respiratory infections	ORPHA:1839
Q Fever	Respiratory distress, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Weight loss,...	ORPHA:781
Mounier-Kühn Syndrome	Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections	ORPHA:3347
Scleroderma	Keratitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Myelitis, Myocardit...	ORPHA:801
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Cough, Weight loss, Pleural...	ORPHA:35687
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal...	ORPHA:217563
Avian Influenza	Respiratory distress, Elevated circulating C-reactive protein concentration, Sepsis, Pneumonia, H...	ORPHA:454836
Fusariosis	Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti...	ORPHA:228119
Rigid Spine Syndrome	Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia	ORPHA:97244
Follicular Lymphoma	Meningitis, Weight loss, Pleural effusion, Splenomegaly	ORPHA:545
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress, Small for gestational age	OMIM:619057
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Young Syndrome	Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul...	OMIM:279000
Immunodeficiency 56	Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr...	OMIM:615207
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Skin rash, Hypertri...	OMIM:603552
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re...	OMIM:615139
Ciliary Dyskinesia, Primary, 39	Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ...	OMIM:618254
Typhoid	Skin rash, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infectious encephalit...	ORPHA:99745
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pancreatitis, Neutrophilia, Eczema, Erythroderma, Colitis, Inflammatory abn...	ORPHA:3260
Ciliary Dyskinesia, Primary, 42	Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ...	OMIM:618695
Cutis Laxa, Autosomal Recessive, Type Ic	Pulmonary artery stenosis, Pulmonary hypoplasia, Emphysema, Tracheomalacia	OMIM:613177
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig...	OMIM:618523
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni...	ORPHA:2442
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Pulmona...	OMIM:613990
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Abnormality of the pulmonary artery, Hypercholesterolemia, Emphysema	ORPHA:363618
Ciliary Dyskinesia, Primary, 27	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,...	OMIM:615504
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema	OMIM:614816
Whim Syndrome	Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections...	ORPHA:51636
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re...	OMIM:307200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia...	OMIM:150550
Congenital Enterovirus Infection	Respiratory distress, Leukocytosis, Skin rash, Leukopenia, Sepsis, Myocarditis, Abnormal macropha...	ORPHA:292
Granulomatosis With Polyangiitis	Keratitis, Sinusitis, Conjunctivitis, Respiratory insufficiency, Chronic otitis media, Hemosideri...	OMIM:608710
Juvenile Dermatomyositis	Elevated circulating C-reactive protein concentration, Skin rash, Elevated circulating creatine k...	ORPHA:93672
Brain-Lung-Thyroid Syndrome	Respiratory distress, Failure to thrive, Asthma, Recurrent respiratory infections, Abnormal pulmo...	ORPHA:209905
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti...	OMIM:619436
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu...	OMIM:616005
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies...	OMIM:615285
Carcinoma Of Esophagus	Obesity, Weight loss, Cough	ORPHA:70482
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc...	ORPHA:443811
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, W...	ORPHA:747
Immunodeficiency 58	Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac...	OMIM:618131
Adult-Onset Still Disease	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ...	ORPHA:829
Cholesterol Pneumonia	Pneumonia, Cough, Tachypnea	OMIM:215030
Bronchial Neuroendocrine Tumor	Asthma, Increased circulating cortisol level, Nonproductive cough, Bronchospasm, Abnormal pulmona...	ORPHA:97287
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Failure to thrive, Small for gestational age, Respiratory insufficiency, Recurrent...	OMIM:613658
Immunodeficiency With Hyper-Igm, Type 1	Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l...	OMIM:308230
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Hermansky-Pudlak Syndrome	Neutropenia, Dyspnea, Weight loss, Epistaxis, Pulmonary fibrosis	ORPHA:79430
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin ...	ORPHA:37042
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sepsis, Abscess, Myocarditis, Severe viral infection, Pneumonia, Septic art...	ORPHA:36234
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi...	OMIM:615294
Omenn Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morpholo...	ORPHA:39041
Meier-Gorlin Syndrome 6	Failure to thrive, Small for gestational age, Tracheobronchomalacia, Emphysema, Recurrent respira...	OMIM:616835
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t...	OMIM:614878
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S...	OMIM:616100
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Inflammation of the large intestine, Pulmonary hypoplasia, Bronchiectasis, Interstit...	OMIM:619708
Hermansky-Pudlak Syndrome 10	Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Neutropenia, Recurrent respirato...	OMIM:617050
Lymphangioleiomyomatosis	Chylothorax, Cough, Restrictive ventilatory defect, Emphysema, Pneumothorax, Dyspnea, Pulmonary l...	ORPHA:538
Overlap Myositis	Rheumatoid arthritis, Leukopenia, Elevated circulating creatine kinase concentration, Severe infe...	ORPHA:206572
Ciliary Dyskinesia, Primary, 28	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,...	OMIM:615505
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin	ORPHA:542592
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Cough, Weight loss, Hypo...	ORPHA:67
Ciliary Dyskinesia, Primary, 11	Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Ne...	OMIM:612649
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Airway obstruction, Anomalous pulmonary venous return, Recurr...	ORPHA:244
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira...	OMIM:608644
Sarcoidosis	Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Weight lo...	ORPHA:797
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:70578
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
Chediak-Higashi Syndrome	Periodontitis, Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dens...	OMIM:214500
Tracheobronchopathia Osteochondroplastica	Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Esophagitis, Pneumonia...	ORPHA:3348
Cystic Echinococcosis	Increased circulating antibody level, Asthma, Unusual infection, Multiple pulmonary cysts, Abnorm...	ORPHA:400
Dermatomyositis	Lung adenocarcinoma, Abnormal eosinophil morphology, Respiratory insufficiency, Abnormal pulmonar...	ORPHA:221
Ciliary Dyskinesia, Primary, 33	Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili...	OMIM:616726
Ciliary Dyskinesia, Primary, 41	Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media	OMIM:618449
Systemic Capillary Leak Syndrome	Pancreatitis, Pulmonary edema, Leukocytosis, Myocarditis, Pericarditis, Cough, Rhinorrhea, Pleura...	ORPHA:188
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, Emphysema, ...	ORPHA:90349
Mantle Cell Lymphoma	Weight loss, Splenomegaly	ORPHA:52416
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Pustule, Skin rash, Eosinophilia, Interstitial pneumonitis, Myocarditis, Cough, He...	ORPHA:139402
Ciliary Dyskinesia, Primary, 14	Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Ciliary dys...	OMIM:613807
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia	OMIM:615561
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections	OMIM:253240
Thymoma	Rheumatoid arthritis, Aplastic anemia, Neoplasm of the lung, Myositis, Cough, Glomerulonephritis,...	ORPHA:99867
Immunodeficiency 23	Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster infection, Increased ci...	OMIM:615816
Al Amyloidosis	Increased circulating antibody level, Nonproductive cough, Increased circulating NT-proBNP concen...	ORPHA:85443
Immunodeficiency 62	Bronchiectasis, Autoimmune thrombocytopenia	OMIM:618459
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope...	OMIM:619705
Eosinophilic Gastroenteritis	Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinop...	ORPHA:2070
Ciliary Dyskinesia, Primary, 36, X-Linked	Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ...	OMIM:300991
Ciliary Dyskinesia, Primary, 7	Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric...	OMIM:611884
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoproteinemia, O...	ORPHA:90362
Diffuse Cutaneous Systemic Sclerosis	Dyspnea, Pulmonary arterial hypertension, Pulmonary fibrosis, Arthritis	ORPHA:220393
Brucellosis	Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pulmonary granu...	ORPHA:1304
Ciliary Dyskinesia, Primary, 26	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,...	OMIM:615500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep...	ORPHA:231154
Ellis Van Creveld Syndrome	Failure to thrive, Aplasia/Hypoplasia of the lungs, Acute leukemia, Emphysema	ORPHA:289
Tracheobronchomegaly	Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:275300
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Pericarditis, Pleuritis, Abnormal lung mor...	ORPHA:767
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur...	OMIM:619466
Laryngeal Neuroendocrine Tumor	Exertional dyspnea, Weight loss, Elevated carcinoembryonic antigen level	ORPHA:100083
Ciliary Dyskinesia, Primary, 32	Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp...	OMIM:616481
Kaposi Sarcoma	Skin rash, Abnormality of the spleen, Recurrent herpes, Abnormal lung morphology, Weight loss	ORPHA:33276
Autoinflammatory-Pancytopenia Syndrome	Failure to thrive, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoprolife...	OMIM:619858
Pfapa Syndrome	Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Weight loss	ORPHA:42642
Specific Granule Deficiency 2	Failure to thrive, Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneu...	OMIM:617475
Acute Promyelocytic Leukemia	Leukocytosis, Chronic infection, Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Stomatiti...	ORPHA:520
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia, Pulmonary fibrosis	OMIM:224230
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Restrictive ventilatory defect, Epistaxis, Pulmonar...	OMIM:203300
Bloom Syndrome	Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ...	ORPHA:125
Melioidosis	Splenic abscess, Unusual skin infection, Prostatitis, Osteoarthritis, Sepsis, Brain abscess, Abno...	ORPHA:31202
Gaucher Disease, Type I	Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Pancyt...	OMIM:230800
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat...	OMIM:600903
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation	Megaloblastic anemia, Recurrent bronchopulmonary infections, Gastritis, Recurrent pneumonia, Emph...	OMIM:219721
Keutel Syndrome	Peripheral pulmonary artery stenosis, Airway obstruction, Sinusitis, Pulmonary artery hypoplasia,...	OMIM:245150
Generalized Pseudohypoaldosteronism Type 1	Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, Recurrent tonsill...	ORPHA:171876
Immunodeficiency 77	Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuber...	OMIM:619223
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections	OMIM:615872
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Weight loss, Re...	ORPHA:98897
Gaucher Disease, Type Ii	Failure to thrive, Apnea, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia	OMIM:230900
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Respiratory insufficiency, Weight loss, Anemia, Recurrent respiratory infections	ORPHA:1842
Gaucher Disease Type 1	Increased circulating antibody level, Splenomegaly, Leukopenia, Osteoarthritis, Abnormal pulmonar...	ORPHA:77259
Yao Syndrome	Asthma, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, P...	OMIM:617321
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Cleft Velum	Aspiration pneumonia, Recurrent otitis media	ORPHA:99772
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decreased circulatin...	OMIM:226300
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc...	ORPHA:158061
Ciliary Dyskinesia, Primary, 20	Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary...	OMIM:615067
Hodgkin Lymphoma	Dyspnea, Weight loss, Cough, Splenomegaly	ORPHA:98293
Wild Type Attr Amyloidosis	Pleural effusion, Weight loss, Pulmonary edema, Abnormal pulmonary interstitial morphology	ORPHA:330001
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Microcytic anemia, Bone-marrow foam cell...	OMIM:257200
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hemophagocytosis, Abnormal cytokine signaling, Seve...	ORPHA:158048
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Sepsis, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respirator...	ORPHA:70587
Graft Versus Host Disease	Recurrent gastroenteritis, Failure to thrive, Inflammatory abnormality of the skin, Hemophagocyto...	ORPHA:39812
Mu-Heavy Chain Disease	Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia	ORPHA:100024
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos...	OMIM:301078
Cyclic Neutropenia	Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Re...	ORPHA:2686
Ciliary Dyskinesia, Primary, 5	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,...	OMIM:608647
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ...	ORPHA:169090
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio...	OMIM:619374
Generalized Eruptive Histiocytosis	Histiocytosis, Maculopapular exanthema, Leukemia, Hypereosinophilia	ORPHA:157991
Ciliary Dyskinesia, Primary, 15	Bronchiectasis, Chronic bronchitis, Wheezing, Cough, Chronic sinusitis, Recurrent pneumonia, Cili...	OMIM:613808
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc...	ORPHA:540
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity, Recurrent upper respiratory tract infections, Pneumonia	OMIM:300209
Systemic Sclerosis	Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase concentration, Abn...	ORPHA:90291
Shwachman-Diamond Syndrome	Steatorrhea, Eczema, Sepsis, Aplastic anemia, Macrocytic anemia, Pneumonia, Pancytopenia, Bone ma...	ORPHA:811
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ...	ORPHA:596
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Autoimmune Polyendocrinopathy Type 4	Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary ...	ORPHA:227990
Immune-Mediated Necrotizing Myopathy	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Abnormal pulmonary inter...	ORPHA:206569
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Ciliary Dyskinesia, Primary, 12	Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary...	OMIM:612650
Neonatal Marfan Syndrome	Neonatal respiratory distress, Hypoxemia, Emphysema	ORPHA:284979
Anaplastic Thyroid Carcinoma	Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss...	ORPHA:142
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe...	ORPHA:169105
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Ciliary Dyskinesia, Primary, 30	Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira...	OMIM:616037
Ciliary Dyskinesia, Primary, 25	Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis...	OMIM:615482
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased circulating cortisol level, Severe B lymphocytopenia, Recurrent uppe...	ORPHA:293978
Gaucher Disease	Increased circulating antibody level, Osteomyelitis, Elevated circulating C-reactive protein conc...	ORPHA:355
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema	OMIM:614437
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Lymphocytosis, Pustule, Splenomegaly, Skin...	ORPHA:50918
Severe Acute Respiratory Syndrome	Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi...	ORPHA:140896
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Acute otitis media, Lack of T cell function, Lymphopenia, Decreased circulating IgG level, Chroni...	ORPHA:35078
Igg4-Related Aortitis	Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati...	ORPHA:449400
Primary Sjögren Syndrome	Airway obstruction, Chronic active hepatitis, Increased circulating antibody level, Abnormal pulm...	ORPHA:289390
Fabry Disease	Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Emphysema, D...	ORPHA:324
Autoimmune Polyendocrinopathy Type 3	Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary ...	ORPHA:227982
Bronchogenic Cyst	Abnormal pleura morphology, Cough, Pneumonia, Chronic infection, Dyspnea, Bronchogenic cyst, Pulm...	ORPHA:2357
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Immunodeficiency 43	Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp...	OMIM:241600
Postinfectious Vasculitis	Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat...	ORPHA:48435
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss, Arthralgia/arthritis	ORPHA:411593
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Elevated circulati...	OMIM:301074
Meier-Gorlin Syndrome 1	Respiratory distress, Failure to thrive, Emphysema, Small for gestational age	OMIM:224690
Majeed Syndrome	Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Co...	ORPHA:77297
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Interlobular septal thickening, Pulmonary arterial hypertension, Pulmonary venous occlusion	OMIM:265450
Eosinophilic Granulomatosis With Polyangiitis	Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Eosinophilia, Respiratory insu...	ORPHA:183
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ...	OMIM:617091
Timothy Syndrome	Bronchitis, Recurrent infections, Pneumonia	OMIM:601005
Mast Cell Sarcoma	Weight loss, Mastocytosis, Splenomegaly	ORPHA:66661
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, W...	OMIM:619381
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome...	ORPHA:98850
Ciliary Dyskinesia, Primary, 22	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,...	OMIM:615444
Adult Idiopathic Neutropenia	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact...	ORPHA:2688
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In...	ORPHA:98848
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis	OMIM:618801
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Splenomegaly, Cachexia, Hepatosplenomegaly, Abnormality of the spleen, Ab...	ORPHA:2072
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Failure to thrive, Apnea, Chronic gastritis, Decreased circulating IgG level, Colitis, Eczema, In...	OMIM:608809
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha...	OMIM:130050
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Failure to thrive, Pancreatitis, Hemophagocytosis, ...	OMIM:222700
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor	ORPHA:2375
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media	OMIM:620032
Ciliary Dyskinesia, Primary, 19	Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus...	OMIM:614935
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Recurrent respiratory infections	ORPHA:1389
Marfan Syndrome	Slender build, Cachexia, Pulmonary artery dilatation, Emphysema, Arthralgia/arthritis, Spontaneou...	ORPHA:558
Gaucher Disease Type 3	Increased circulating antibody level, Splenomegaly, Abnormal pulmonary interstitial morphology, P...	ORPHA:77261
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Ciliary Dyskinesia, Primary, 13	Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect...	OMIM:613193
Classic Hodgkin Lymphoma	Skin rash, Splenomegaly, Respiratory insufficiency, Cough, Bone marrow hypocellularity, Weight loss	ORPHA:391
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impaired neutrophil ...	OMIM:613470
Dyskeratosis Congenita, X-Linked	Blepharitis, Conjunctivitis, Leukopenia, Restrictive ventilatory defect, Pancytopenia, Bone marro...	OMIM:305000
Microsporidiosis	Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr...	ORPHA:2552
Stevens-Johnson Syndrome	Pancreatitis, Sepsis, Abnormal pleura morphology, Cough, Abnormality of neutrophils, Weight loss,...	ORPHA:36426
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ...	OMIM:603553
Mucoepithelial Dysplasia, Hereditary	Fibrocystic lung disease, Eosinophilia, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, ...	OMIM:158310
Desmoplastic Small Round Cell Tumor	Cachexia, Anemia, Weight loss, Neoplasm of the lung	ORPHA:83469
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia...	ORPHA:284
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Weight loss, Cachexia	OMIM:612075
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Weight loss, Cough	ORPHA:216866
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Weight loss	ORPHA:3165
Ciliary Dyskinesia, Primary, 35	Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections	OMIM:617092
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak...	ORPHA:2590
Simple Cryoglobulinemia	Viral hepatitis, Nephritis, Monoclonal elevation of circulating IgA, Membranoproliferative glomer...	ORPHA:91139
Toxic Epidermal Necrolysis	Respiratory distress, Pancreatitis, Anemia, Sepsis, Abnormal pleura morphology, Cough, Restrictiv...	ORPHA:537
Ciliary Dyskinesia, Primary, 24	Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis	OMIM:615481
Rhabdoid Tumor	Weight loss, Anemia, Thrombocytopenia, Respiratory insufficiency	ORPHA:69077
Familial Mediterranean Fever	Crohn's disease, Elevated circulating C-reactive protein concentration, Neutrophilia, Elevated ci...	OMIM:249100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia	OMIM:253700
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Exertiona...	ORPHA:514
Meconium Aspiration Syndrome	Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,...	ORPHA:70588
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit...	OMIM:244400
Listeriosis	Respiratory distress, Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditi...	ORPHA:533
Autosomal Dominant Cutis Laxa	Bronchiectasis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema	ORPHA:90348
Alpha-Mannosidosis, Adult Form	Recurrent gastroenteritis, Hepatosplenomegaly, Recurrent infections, Pneumonia, Pancytopenia	ORPHA:309288
Takayasu Arteritis	Arthritis, Weight loss, Increased inflammatory response, Abnormal pattern of respiration, Anemia,...	ORPHA:3287
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Pancreatitis, Lymphadenitis, Chronic sinus...	ORPHA:449395
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract...	OMIM:618699
Familial Nasal Acilia	Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin...	ORPHA:922
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh...	OMIM:618063
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab...	OMIM:614017
Ciliary Dyskinesia, Primary, 17	Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Recurrent respira...	OMIM:614679
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:618398
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Sepsis, Recurrent infections, Respiratory failure requiring assis...	ORPHA:204
Yellow Nail Syndrome	Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Bronchiectasis, Dyspnea, Pulmonary a...	ORPHA:662
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Respiratory tract infection	OMIM:619445
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ...	OMIM:267700
Nephronophthisis-Like Nephropathy 2	Bronchiectasis, Recurrent respiratory infections, Cough	OMIM:619468
Whipple Disease	Splenomegaly, Cachexia, Respiratory insufficiency, Myositis, Myocarditis, Pericarditis, Arthritis...	ORPHA:3452
Galactose Epimerase Deficiency	Weight loss, Splenomegaly	ORPHA:79238
Immunodeficiency 65, Susceptibility To Viral Infections	Bronchiectasis, Stomatitis, Recurrent viral infections, Recurrent gastroenteritis	OMIM:618648
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Keratoconjunctivitis, Tachypnea, Perioral eczema, Weight loss, Thro...	ORPHA:79242
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Hypoproteinemia, ...	ORPHA:26793
Immunodeficiency 21	Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi...	OMIM:614172
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Leukocytosis, Ple...	ORPHA:544482
Poems Syndrome	Increased circulating antibody level, Polycythemia, Thrombocytosis, Restrictive ventilatory defec...	ORPHA:2905
Pelizaeus-Merzbacher Disease	Cachexia, Respiratory insufficiency, Failure to thrive in infancy, Recurrent respiratory infections	ORPHA:702
Mirage Syndrome	Decreased body weight, Lymphopenia, Aspiration pneumonia, Leukopenia, Sepsis, Recurrent urinary t...	OMIM:617053
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Elevated circulating creatine kinase concentration, Abnormal macrophage morphology	ORPHA:353
Marfan Syndrome	Pneumothorax, Pulmonary artery dilatation, Emphysema	OMIM:154700
Shigellosis	Splenic abscess, Acute colitis, Leukocytosis, Peritonitis, Abscess, Sepsis, Myocarditis, Arthriti...	ORPHA:810
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency, Unilateral lung agenesis, Recurrent in...	ORPHA:500150
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr...	ORPHA:35858
Panbronchiolitis, Diffuse	Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia	OMIM:604809
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec...	OMIM:612541
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Recurrent fungal infections, Chronic oral candidiasis, Abnormal T cell subset distribution, Decre...	ORPHA:221139
Insulin-Resistance Syndrome Type B	Decreased body weight, Increased circulating IgA level, Nephritis, Skin rash, Leukopenia, Osteoar...	ORPHA:2298
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis	ORPHA:86884
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Splenomegaly	ORPHA:86893
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,...	ORPHA:29073
Nephroblastoma	Weight loss, Neoplasm of the lung	ORPHA:654
Ataxia-Telangiectasia	Failure to thrive, Decreased circulating IgA level, Sinusitis, Lymphopenia, Decreased circulating...	OMIM:208900
Tubulointerstitial Nephritis With Uveitis	Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Glomerulone...	OMIM:607665
Hennekam-Beemer Syndrome	Failure to thrive, Respiratory insufficiency, Pneumonia, Mastocytosis	ORPHA:2135
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia...	OMIM:606763
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Lymphopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimm...	OMIM:607944
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,...	OMIM:618849
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Increased circulating antibody level, Failure to th...	ORPHA:470
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Cryptococcosis	Respiratory distress, Osteomyelitis, Prostatitis, Nodular pattern on pulmonary HRCT, Peritonitis,...	ORPHA:1546
Coccidioidomycosis	Respiratory distress, Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Cocc...	ORPHA:228123
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Fanconi Anemia, Complementation Group F	Failure to thrive, Leukopenia, Pneumonia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:603467
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Viss Syndrome	Failure to thrive, Decreased circulating IgA level, Chronic gastritis, Asthma, Eczema, Atopic der...	OMIM:619472
Leukocyte Adhesion Deficiency Type Ii	Keratitis, Failure to thrive, Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrop...	ORPHA:99843
Loeffler Endocarditis	Eosinophilia, Cough, Pericarditis, Dyspnea, Weight loss	ORPHA:75566
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus...	ORPHA:324964
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