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Gene: Wfdc2 MGI:1914951

Gene Summary

Name:

WAP four-disulfide core domain 2

Synonyms:

WAP5, 1600023A02Rik, HE4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Wfdc2^em1(IMPC)H	HOM	Early adult	0.00
enlarged heart	Wfdc2^em1(IMPC)H	HET	Early adult	0.00
decreased eosinophil cell number	Wfdc2^em1(IMPC)H	HET	Early adult	7.64×10^-06
increased circulating amylase level	Wfdc2^em1(IMPC)H	HET	Early adult	1.56×10^-07

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

1 Images

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Human diseases caused by Wfdc2 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 Wfdc2 (0 diseases)
Human diseases predicted to be associated with Wfdc2 (872 diseases)

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

The table below shows human diseases predicted to be associated to Wfdc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Familial Nasal Acilia	Atelectasis, Respiratory distress, Dyspnea, Chronic rhinitis, Abnormal respiratory motile cilium ...	ORPHA:922
Ciliary Dyskinesia, Primary, 6	Absent/shortened outer dynein arms, Ciliary dyskinesia, Abnormal ciliary motility, Sinusitis, Rec...	OMIM:610852
Ciliary Dyskinesia, Primary, 28	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys...	OMIM:615505
Ciliary Dyskinesia, Primary, 11	Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Abnormal central microtubular pair mor...	OMIM:612649
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia, Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morpho...	OMIM:215520
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ...	OMIM:620032
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Absent respiratory ciliary axoneme radial spokes, Ciliary dyskinesia, Chr...	OMIM:616481
Ciliary Dyskinesia, Primary, 13	Absent outer dynein arms, Recurrent otitis media, Ciliary dyskinesia, Recurrent bronchitis, Recur...	OMIM:613193
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Dynein arm defect of respiratory mo...	OMIM:614679
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Ciliary dyski...	OMIM:611884
Ciliary Dyskinesia, Primary, 34	Reduced respiratory ciliary beating frequency, Absent central microtubular pair morphology of res...	OMIM:617091
Bronchiolitis Obliterans	Pneumonia, Dyspnea, Hypoxemia, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans	ORPHA:1303
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor...	ORPHA:70589
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Ciliary dyskin...	OMIM:612444
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Ciliary dyskin...	OMIM:616726
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Atelectasis, Respiratory distress, Bronchiectasis, Recurrent respiratory in...	OMIM:619466
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Ciliary dyski...	OMIM:613808
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Chr...	OMIM:615294
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Ciliary dyskinesia, Abnormal ciliary ...	OMIM:613807
Ciliary Dyskinesia, Primary, 10	Chronic otitis media, Ciliary dyskinesia, Recurrent sinusitis, Abnormal respiratory motile cilium...	OMIM:612518
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Ciliary dyskinesia, Chronic rhinitis, Abnormal central microtubular pair mo...	OMIM:612650
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Recurrent...	OMIM:615500
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Death in infancy, ...	OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection...	OMIM:263000
Acute Interstitial Pneumonia	Ground-glass opacification, Elevated circulating creatinine concentration, Atelectasis, Cyanosis,...	ORPHA:79126
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Absent outer dynein arms, Ciliary dyskinesia, Abnormal ciliary motility, Ch...	OMIM:614017
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Recurrent r...	OMIM:618801
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Coiled sperm flagella, Absent inner dynein arms, Chronic sinusitis, Chronic...	OMIM:620356
Muscular Hypertonia, Lethal	Pneumonia, Death in infancy, Respiratory distress	OMIM:254120
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Orthodeoxia, Reticular pattern on pulmonary HRCT, Exe...	ORPHA:2032
Immunodeficiency 95	Ground-glass opacification, Increased circulating IgG3 level, Respiratory distress, Recurrent vir...	OMIM:619773
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Recurrent...	OMIM:614874
Ciliary Dyskinesia, Primary, 29	Atelectasis, Ciliary dyskinesia, Decreased circulating antibody level, Bronchiectasis, Recurrent ...	OMIM:615872
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Dyspnea, Death in infancy, Apnea, Interlobular septal th...	OMIM:265120
Ciliary Dyskinesia, Primary, 30	Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Recurrent...	OMIM:616037
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Hypoxemia, Respiratory tract in...	ORPHA:79127
Congenital Lobar Emphysema	Emphysema, Respiratory distress	ORPHA:1928
Ciliary Dyskinesia, Primary, 19	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys...	OMIM:614935
Asbestos Intoxication	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele...	ORPHA:2302
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r...	OMIM:610910
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, T...	ORPHA:70587
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea	OMIM:267450
C1Q Deficiency 2	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Elevated circu...	OMIM:620321
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Ciliary dyskinesia, Nasal polyposis, Bronchiectasis, Sinusitis, Immotile ci...	OMIM:606763
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Hypohidrotic ectodermal dysplasia, Ciliary dyskinesia, Abnormal respiratory motile cilium morphol...	OMIM:225050
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media	OMIM:300455
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Ciliary dyskinesia, Nasal polyposis, Chronic rh...	OMIM:242670
Idiopathic Chronic Eosinophilic Pneumonia	Generalized abnormality of skin, Hypersensitivity pneumonitis, Abnormal pulmonary thoracic imagin...	ORPHA:2902
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia...	OMIM:610913
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Hypoxemia, Dyspnea, Respiratory distress	ORPHA:140896
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates, Dyspnea	ORPHA:64741
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Ciliary Dyskinesia, Primary, 22	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys...	OMIM:615444
Acute Lung Injury	Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase...	ORPHA:178320
High Altitude Pulmonary Edema	Pulmonary edema, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis	ORPHA:330012
Meconium Aspiration Syndrome	Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele...	ORPHA:70588
Hereditary Pulmonary Alveolar Proteinosis	Foam cells, Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Hypoxemia, Ta...	ORPHA:264675
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Dyspnea, E...	OMIM:612387
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Absent outer dynein arms, Atelectasis, Ciliary dyskinesia, Recurrent bronch...	OMIM:244400
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Bronchiectasis, Rhinitis, Immotile cilia, Absent inner and outer dynein arm...	OMIM:618063
Spermatogenic Failure 38	Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Taper...	OMIM:618433
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ground-glass opacification, Atelectasis, Respiratory distress, Parenchymal consolidation, Elevate...	OMIM:610978
Recurrent Respiratory Papillomatosis	Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Recurrent pneumonia, Recurr...	ORPHA:60032
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Dyspnea	ORPHA:60026
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage	ORPHA:238459
Pleural Mesothelioma	Respiratory distress, Dyspnea, Pleural effusion, Abnormal lung morphology, Abnormal pleura morpho...	ORPHA:50251
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, Pneumonia	ORPHA:70578
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertional dyspnea, Abnormal pulmonary vein...	ORPHA:199241
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Exertional dyspnea, Atelectasis, Elevated circulating creatine kinase concentration, Bronchioliti...	ORPHA:254361
Tracheobronchopathia Osteochondroplastica	Exertional dyspnea, Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurre...	ORPHA:3348
Perching Syndrome	Cyanosis, Respiratory distress	OMIM:617055
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Cryptogenic Organizing Pneumonia	Pneumothorax, Ground-glass opacification, Elevated circulating C-reactive protein concentration, ...	ORPHA:1302
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Placental Insufficiency	Abnormal lung morphology, Hypoxemia, Miscarriage	ORPHA:439167
Bronchogenic Cyst	Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Dyspnea, Abnormal pl...	ORPHA:2357
Primary Pulmonary Hypoplasia	Pneumothorax, Cyanosis, Tachypnea, Hypoxemia, Apnea, Pulmonary hypoplasia, Recurrent respiratory ...	ORPHA:2257
Autoimmune Pulmonary Alveolar Proteinosis	Foam cells, Crazy paving pattern, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Cy...	ORPHA:747
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Tricuspid Atresia	Coarctation of aorta, Cyanosis, Pulmonary artery atresia	ORPHA:1209
Ciliary Dyskinesia, Primary, 40	Reduced respiratory ciliary beating frequency, Absent outer dynein arms, Azoospermia, Chronic rhi...	OMIM:618300
Idiopathic Achalasia	Bronchitis, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia	ORPHA:930
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Phosphoserine Aminotransferase Deficiency	Apnea, Cyanotic episode, Death in infancy	OMIM:610992
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation	ORPHA:91359
Pneumocystosis	Exertional dyspnea, Acute infectious pneumonia, Pleural effusion, Dyspnea, Hypoxemia, Multiple pu...	ORPHA:723
Panbronchiolitis, Diffuse	Bronchiectasis, Hypoxemia, Foam cells	OMIM:604809
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Resp...	ORPHA:36238
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Dyspnea, Res...	ORPHA:60033
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Apnea, Pulmonary hypoplasia, Neonatal death	OMIM:615228
Congenital Pulmonary Lymphangiectasia	Cyanosis, Pleural effusion, Respiratory distress	ORPHA:2414
Young Syndrome	Azoospermia, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopulmon...	OMIM:279000
Interstitial Lung Disease 2	Exertional dyspnea, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual i...	OMIM:178500
Interstitial Lung Disease 1	Ground-glass opacification, Intralobular septal thickening, Nonspecific interstitial pneumonia, D...	OMIM:619611
Laryngotracheal Angioma	Apnea, Cyanosis, Intercostal retractions, Respiratory distress	ORPHA:137935
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis, Dyspnea	ORPHA:2004
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia	OMIM:265150
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Bronchiolitis, Respiratory distress	OMIM:615993
Gaucher Disease Type 2	Abnormal pattern of respiration, Recurrent respiratory infections, Respiratory distress	ORPHA:77260
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Tempi Syndrome	Abnormality of the pulmonary vasculature, Transudative pleural effusion, Facial erythema, Hypoxem...	ORPHA:284227
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Dyspnea, Bronchiectasis, Reduced circulating alpha-1-antitrypsin concentrati...	OMIM:613490
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Lymphocytic interstitial pneumonia, Respiratory distress	OMIM:245590
Ciliary Dyskinesia, Primary, 20	Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Recurrent...	OMIM:615067
Ciliary Dyskinesia, Primary, 42	Pneumonia, Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Bronchiectasis	OMIM:618695
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Respiratory distress	ORPHA:91130
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin...	ORPHA:244
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	OMIM:616414
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Dyspnea	OMIM:234810
Ciliary Dyskinesia, Primary, 23	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys...	OMIM:615451
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiect...	OMIM:604571
Avian Influenza	Pneumothorax, Ground-glass opacification, Myelitis, Elevated circulating C-reactive protein conce...	ORPHA:454836
Immunodeficiency 104	Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Otitis media, P...	OMIM:608971
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Pulmonary opacity, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis	ORPHA:411703
Developmental And Epileptic Encephalopathy 30	Death in infancy, Respiratory distress	OMIM:616341
Heart Defects-Limb Shortening Syndrome	Abnormality of the pulmonary artery, Death in infancy	ORPHA:1354
Choanal Atresia	Recurrent respiratory infections, Cyanosis, Respiratory distress	ORPHA:137914
Tularemia	Pneumonia, Abnormal pulmonary thoracic imaging finding, Increased circulating antibody level, Inf...	ORPHA:3392
Waardenburg Syndrome Type 3	Atelectasis, Acrocyanosis	ORPHA:896
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Ground-glass opacification, Abnormal pulmonary interstitial morphology, Recurrent otitis media, A...	OMIM:620233
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia	OMIM:178370
Ciliary Dyskinesia, Primary, 27	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys...	OMIM:615504
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, Respiratory distress	OMIM:300219
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections	OMIM:618806
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Livedo, Recurrent upper respiratory tract infection...	OMIM:615139
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Decreased HDL cholesterol conce...	OMIM:607616
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Recurrent otitis media, Ciliary dys...	OMIM:608647
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Aspergillosis	Ground-glass opacification, Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE le...	ORPHA:1163
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema, Emphysema	OMIM:618307
Pulmonary Alveolar Microlithiasis	Pneumothorax, Ground-glass opacification, Pleural thickening, Exertional dyspnea, Cyanosis, Bronc...	ORPHA:60025
Diffuse Alveolar Hemorrhage	Hypoxemia, Dyspnea, Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis	ORPHA:90060
Microlissencephaly	Pneumonia	ORPHA:1083
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Colonic eosinophilia, Bronchiectas...	OMIM:617638
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Ciliary dyskinesia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis	OMIM:619436
Combined Immunodeficiency, X-Linked	Recurrent bronchitis, Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia	OMIM:312863
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Glomerulonephritis	OMIM:247800
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Stuve-Wiedemann Syndrome 2	Stillbirth, Neonatal death, Death in adolescence, Respiratory distress	OMIM:619751
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Generalized abnormality of skin, Atelectasis, Skin rash, Increased circulat...	ORPHA:2314
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening, Exertional dyspnea, Dyspnea	OMIM:614370
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Exertional dyspnea, Abnormal aort...	ORPHA:99050
Acquired Methemoglobinemia	Hypoxemia, Cyanosis, Dyspnea, Respiratory distress	ORPHA:464453
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Ciliary dyskinesia, Nasal polyposis, Recurrent sinusitis, Bronchiectasis, R...	OMIM:620197
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Dyspnea, Elevated circulating creatine kinase concentration, Aspiration pneumonia	ORPHA:90117
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea	ORPHA:71277
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis...	ORPHA:51636
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Abnormal aortic arch morphology, Hypoplastic aortic arch, Interrupted aortic arch, Hypo...	ORPHA:860
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Respiratory distress	ORPHA:673
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle...	OMIM:619632
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Respiratory distress	ORPHA:238329
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Decreased circulating IgG level, Re...	OMIM:607594
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ...	OMIM:300400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Neonatal death, Bilateral lung agenesis	OMIM:601612
Pulmonary Arteriovenous Malformation	Cyanosis, Pleural empyema, Dyspnea, Hypoxemia, Pulmonary hemorrhage, Hemothorax, Telangiectasia	ORPHA:2038
Lymphoid Interstitial Pneumonia	Dyspnea, Bronchiectasis, Hypoxemia, Respiratory tract infection, Pulmonary fibrosis, Multiple pul...	ORPHA:79128
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, Recurrent respir...	OMIM:608644
Breath-Holding Spells	Cyanosis	OMIM:607578
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Immunodeficiency 13	Recurrent otitis media, Nasal polyposis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis...	OMIM:615518
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Recurrent lower respiratory tract infections, Complete or near-complete abs...	OMIM:620282
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary opacity,...	ORPHA:217563
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Respiratory distress	ORPHA:596
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress	OMIM:620011
Primary Effusion Lymphoma	Pleural effusion, Dyspnea	ORPHA:48686
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress	OMIM:617180
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Congenital Tracheomalacia	Pneumothorax, Cyanosis, Emphysema, Intercostal retractions, Right aortic arch, Dyspnea, Bronchiec...	ORPHA:95430
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D...	OMIM:600649
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c...	OMIM:620481
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:254210
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia, Respiratory distress	OMIM:616733
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Recurrent pneu...	OMIM:615482
Relapsing Polychondritis	Myocarditis, Purpura, Atelectasis, Recurrent aphthous stomatitis, Inflammatory abnormality of the...	ORPHA:728
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia	OMIM:601457
Immunodeficiency 43	Lung abscess, Abnormal circulating IgM level, Hypoproteinemia, Decreased circulating IgG level, D...	OMIM:241600
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Immotile cilia...	OMIM:615481
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Immunodeficiency 48	Pneumonia, Recurrent respiratory infections, Panhypogammaglobulinemia, Eczematoid dermatitis	OMIM:269840
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Chronic rhinitis, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Chr...	OMIM:617092
Succinic Acidemia	Respiratory distress	OMIM:600335
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery, Premature graying of hair	ORPHA:895
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Atelectasis, Elevated circulating C-reactive protein concentration, Respira...	ORPHA:319213
Chronic Beryllium Disease	Ground-glass opacification, Hypersensitivity pneumonitis, Dyspnea, Pulmonary fibrosis, Lymphocyti...	ORPHA:133
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:605809
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Arthritis, Decreased circulating antibody level, Bronchiectasis, Increase...	ORPHA:397596
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema	ORPHA:1164
Immunodeficiency 27A	Increased circulating IgG level, Salmonella osteomyelitis, Increased circulating IgM level, Pneum...	OMIM:209950
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Recurrent sinopu...	OMIM:615513
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Barth Syndrome	Recurrent bronchitis, Elevated monolysocardiolipin/cardiolipin ratio, Abnormal mitochondrial morp...	OMIM:302060
Nipah Virus Disease	Recurrent pharyngitis, Respiratory distress	ORPHA:99825
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Rec...	OMIM:620438
Tracheobronchomegaly	Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:275300
Lethal Osteosclerotic Bone Dysplasia	Dyspnea, Respiratory distress	ORPHA:1832
Interstitial Lung And Liver Disease	Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation, Dyspnea, Hyp...	OMIM:615486
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Increased circulating IgE level, Recurrent bacterial skin infections, Atopi...	ORPHA:217390
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Pulmonary artery atresia	OMIM:606217
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Tachypnea, Anomalous pulmonary venous return, Cyanosis	ORPHA:555874
Anaplastic Thyroid Carcinoma	Dyspnea, Neoplasm of the lung, Respiratory distress	ORPHA:142
Ciliary Dyskinesia, Primary, 41	Recurrent sinusitis, Recurrent otitis media, Bronchiectasis	OMIM:618449
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ...	OMIM:618426
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, S...	ORPHA:36234
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice	ORPHA:464370
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator...	OMIM:614069
Immunodeficiency 62	Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib...	OMIM:618459
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Apical pulmonary opacity, Sinusitis, Pericarditis, Arthra...	ORPHA:449280
Farber Disease	Atelectasis, Respiratory distress, Arthritis, Diffuse reticular or finely nodular infiltrations, ...	ORPHA:333
Pericardial And Diaphragmatic Defect	Hypoxemia, Pulmonary sequestration, Pulmonary hypoplasia	ORPHA:2847
Zygomycosis	Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Myocarditis, Nephritis, Endocarditi...	ORPHA:73263
Congenital Myopathy 10A, Severe Variant	Elevated circulating creatine kinase concentration, Respiratory distress	OMIM:614399
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Pulmonary edema, Hypoxemia, Pleural effusion	ORPHA:542323
Ciliary Dyskinesia, Primary, 39	Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections	OMIM:618254
Congenital Heart Block	Cyanosis, Pleural effusion	ORPHA:60041
Pulmonary Hypertension, Primary, 1	Pulmonary artery vasoconstriction, Dyspnea, Pulmonary aterial intimal fibrosis, Pulmonary arteria...	OMIM:178600
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Respiratory distress	ORPHA:26792
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Respirato...	ORPHA:141127
Fusariosis	Lung abscess, Ground-glass opacification, Hypersensitivity pneumonitis, Panniculitis, Pulmonary o...	ORPHA:228119
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Dyspnea, Pul...	ORPHA:538
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory distress	ORPHA:254875
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis	OMIM:300991
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgE, Crohn's disease, Decreased circulating IgG level, Recurrent sinopulmon...	OMIM:618394
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Double Outlet Right Ventricle	Tachypnea, Coarctation of aorta, Cyanosis, Pulmonary artery atresia	ORPHA:3426
Nephronophthisis-Like Nephropathy 2	Bronchiectasis, Elevated circulating creatinine concentration, Recurrent respiratory infections, ...	OMIM:619468
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Respiratory distress, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kina...	ORPHA:26793
Absence Of The Pulmonary Artery	Pulmonary edema, Right aortic arch, Dyspnea, Orthopnea, Coarctation of aorta, Recurrent pneumonia...	ORPHA:980
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections...	OMIM:614878
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Mildly elevated creatine kinase, Respiratory distress, Decreased circulating carnitine concentration	ORPHA:254864
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Thyroiditis, Decre...	ORPHA:436159
Isolated Agammaglobulinemia	Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re...	ORPHA:229717
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopul...	OMIM:616576
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis	OMIM:266265
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Purpura, Myositis, Arthritis, Skin rash, Nasal polyposis, Sinusitis, Urticaria, Cuti...	ORPHA:183
Immunodeficiency 32B	Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Pneumonia, Hypoalbuminemia, Recurrent ...	OMIM:226990
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Recurrent lower respiratory tract infections, Increased circulating IgG l...	OMIM:619220
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary hypoplasia	OMIM:245650
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Cyanosis, Exertional dyspnea	ORPHA:98913
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Respiratory distress	OMIM:614741
Tetrasomy 5P	Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Respiratory distress	ORPHA:3309
Whim Syndrome 1	Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Recurrent ...	OMIM:193670
Combined Oxidative Phosphorylation Deficiency 30	Death in infancy, Respiratory distress	OMIM:616974
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Psoriasiform dermatitis, Hypocalcemia, Thyroiditis, Urticaria, ...	ORPHA:37042
Restrictive Dermopathy 2	Cyanosis, Respiratory distress	OMIM:619793
Cutis Laxa, Autosomal Dominant 1	Emphysema, Prematurely aged appearance, Dyspnea, Bronchiectasis, Poor wound healing, Peripheral p...	OMIM:123700
Granulomatous Disease, Chronic, X-Linked	Air bronchogram, Atelectasis, Discoid lupus rash, Pleural effusion, Recurrent bacterial skin infe...	OMIM:306400
Goodpasture Syndrome	Ground-glass opacification, Exertional dyspnea, Reticular pattern on pulmonary HRCT, Cyanosis, Pa...	OMIM:233450
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Alpha-1-Antitrypsin Deficiency	Jaundice, Panniculitis, Emphysema, Bronchitis, Bronchiectasis, Reduced circulating alpha-1-antitr...	ORPHA:60
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly	OMIM:269920
Immunodeficiency 116	Bronchiectasis, Recurrent respiratory infections	OMIM:608957
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Dyspnea, Respiratory distress	ORPHA:2759
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Right aortic arch, Pulmonary artery atresia, Total anomalous pulmonary v...	OMIM:616749
Retinal Dystrophy And Microvillus Inclusion Disease	Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i...	OMIM:619446
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Yellow Nail Syndrome	Generalized abnormality of skin, Pleuritis, Dyspnea, Neoplasm of the lung, Sinusitis, Rhinitis, B...	ORPHA:662
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Immunodeficiency 75 With Lymphoproliferation	Bronchiectasis, Recurrent respiratory infections	OMIM:619126
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Myositis, Highly elev...	ORPHA:258
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch...	ORPHA:183675
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Salmonella osteomyelitis, Lymphadenitis, Vasculitis in the skin, Abnormal circulating interleukin...	ORPHA:319552
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Decreased circulati...	ORPHA:169160
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c...	OMIM:618982
Odontochondrodysplasia 1	Death in infancy, Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory distress	OMIM:184260
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k...	OMIM:300280
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Unconjugated hyperbilirubinemia, Tachypnea, Decreased circulating IgG level, Pulmona...	OMIM:618278
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Angioedema, Erythema, Respiratory distress	ORPHA:100057
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Increased ci...	OMIM:618282
Laryngomalacia	Respiratory distress	OMIM:150280
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Scimitar Syndrome	Pneumothorax, Bronchogenic cyst, Descending aorta hypoplasia, Respiratory distress, Pulmonary seq...	ORPHA:185
Congenital Toxoplasmosis	Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia	ORPHA:858
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Acrocyanosis	ORPHA:1867
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Elevated circulating C-reactive protein concentration, Respiratory distress, Stomatitis, Skin ras...	OMIM:612852
Immunodeficiency 102	Decreased circulating total IgM, Increased circulating interleukin 6 concentration, Recurrent low...	OMIM:301082
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Erythema, Thyroiditis, Skin rash, Dyspnea, Angioedema, Pustule, Infectious encephali...	ORPHA:139402
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating...	OMIM:212140
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormality of the pulmonary artery, Abnormal aortic morphology	ORPHA:1166
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly	OMIM:619064
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis, Dyspnea	ORPHA:439
Atrial Septal Defect, Coronary Sinus Type	Exertional dyspnea, Cyanosis, Dyspnea, Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Cardiac Valvular Dysplasia 2	Central cyanosis, Ascending tubular aorta aneurysm, Pulmonary artery dilatation	OMIM:620067
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre...	OMIM:619752
Surfactant Metabolism Dysfunction, Pulmonary, 4	Ground-glass opacification, Tachypnea, Intraalveolar phospholipid accumulation	OMIM:300770
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, Congenital thro...	OMIM:618886
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Neonatal death, Pulmonary hypoplasia, Respiratory distress	OMIM:231680
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Atrial Septal Defect, Ostium Primum Type	Exertional dyspnea, Cyanosis, Dyspnea, Tachypnea, Recurrent respiratory infections, Pulmonary art...	ORPHA:99106
Mercury Poisoning	Interstitial pneumonitis, Dyspnea, Hypokalemia, Respiratory distress	ORPHA:330021
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Emphysema, Pulmonary fibrosis	OMIM:618913
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Sudden episodic apnea, Apneic episodes precipitated by illness,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Sudden episodic apnea, Apneic episodes precipitated by illness,...	ORPHA:98914
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Dermatological manifestations of systemic disorders, ...	ORPHA:97287
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Decreased specific antibody r...	OMIM:614700
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Right aortic arch, Death in infancy, Partial anomalous pulmonary venous ...	OMIM:617478
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch...	OMIM:618523
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Skin rash, Decreased circulating antibody level, Partial absence of ...	OMIM:618108
Cutis Laxa, Autosomal Recessive, Type Ic	Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Peripheral pulmonary artery st...	OMIM:613177
Glycogen Storage Disease Due To Acid Maltase Deficiency	Exertional dyspnea, Atelectasis, Respiratory distress, Elevated circulating creatine kinase conce...	ORPHA:365
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Elevated circulating creatine kinase concentration, Respiratory distress	ORPHA:86812
Congenital Disorder Of Glycosylation, Type Iu	Elevated circulating creatine kinase concentration, Respiratory distress	OMIM:615042
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Erythema, Bronchitis...	ORPHA:420741
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration	OMIM:222765
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Agnathia-Otocephaly Complex	Pulmonary hypoplasia, Respiratory distress	OMIM:202650
N-Acetylglutamate Synthase Deficiency	Hyperglutamatemia, Respiratory distress, Hyperalaninemia, Hyperammonemia, Low plasma citrulline, ...	OMIM:237310
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Respiratory distress, Dyspnea, Recurrent respirato...	OMIM:211530
Truncus Arteriosus	Abnormal lung lobation, Pulmonary edema, Interrupted aortic arch, Right aortic arch, Pulmonary ar...	ORPHA:3384
Lymphatic Malformation 12	Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,...	OMIM:620014
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Respiratory distress, Aspiration pneumonia, Apnea, Recurrent pneumonia	ORPHA:314655
Carnitine-Acylcarnitine Translocase Deficiency	Sudden episodic apnea, Decreased circulating carnitine concentration, Elevated creatine kinase af...	ORPHA:159
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Pulmonary fibrosis	OMIM:620365
Holocarboxylase Synthetase Deficiency	Perioral eczema, Respiratory distress, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemi...	ORPHA:79242
Auriculocondylar Syndrome 2A	Apnea, Respiratory distress	OMIM:614669
Double Outlet Left Ventricle	Pulmonary artery stenosis, Tachypnea, Cyanosis	ORPHA:3427
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Cardiomegaly	OMIM:614702
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ...	OMIM:242860
Neurogenic Arthrogryposis Multiplex Congenita	Mildly elevated creatine kinase, Respiratory distress	ORPHA:1143
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Duodenal Atresia	Abnormality of the pulmonary artery	ORPHA:1203
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hypoplasia, Bruising suscep...	ORPHA:536467
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Dyspnea, Elevated bronch...	OMIM:181000
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Pulmonary hypoplasia, Respiratory distress	OMIM:617895
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG...	OMIM:243700
Lymphatic Malformation 7	Chylothorax, Pulmonary edema, Pleural effusion, Respiratory distress	OMIM:617300
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Congenital Enterovirus Infection	Myocarditis, Respiratory distress, Skin rash, Pleural effusion, Hyperammonemia, Hypoalbuminemia, ...	ORPHA:292
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Cutaneous photosensitivity, Seborrheic derma...	OMIM:618131
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation	OMIM:209880
Common Variable Immunodeficiency	Chronic otitis media, Purpura, Emphysema, Recurrent bronchitis, Decreased circulating antibody le...	ORPHA:1572
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Pancreatitis, Respiratory distress	ORPHA:289916
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Petechiae, Vasculitis in the skin, Recurrent upper respiratory tract infections, Interst...	OMIM:620296
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Encephalopathy, Ethylmalonic	Death in infancy, Petechiae, Acrocyanosis	OMIM:602473
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Respiratory distress, Abnormal circulating ceruloplasmin concentration, Abnormal ci...	OMIM:620306
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Abnormal circulating creatine kinase concentration, Elevated circulating creatine kinase concentr...	OMIM:620375
Kallmann Syndrome-Heart Disease Syndrome	Right aortic arch, Cyanosis, Pulmonary artery hypoplasia	ORPHA:2326
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Inflammatory abnormality of the eye, Stomatitis, Acute h...	ORPHA:39812
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Hypomethioninemia, Jaundice, Hyperhomocystinemia	OMIM:250940
Q Fever	Myocarditis, Abnormal pulmonary interstitial morphology, Purpura, Increased circulating antibody ...	ORPHA:781
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Immunodeficiency 56	Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusiti...	OMIM:615207
Nocardiosis	Pneumothorax, Scleritis, Emphysema, Pleuritis, Respiratory distress, Thyroiditis, Pleural effusio...	ORPHA:31204
Congenital Rubella Syndrome	Abnormality of the pulmonary artery, Jaundice	ORPHA:290
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Hyperglycinemia, Cyanotic episode	ORPHA:284417
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
Sepsis In Premature Infants	Purpura, Jaundice, Increased circulating interleukin 6 concentration, Elevated circulating C-reac...	ORPHA:90051
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Low plasma citrulline, Apnea, Cyanosis	OMIM:261680
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Hyperammonemia, Apnea, Aspiration pneumonia	OMIM:618253
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hyperammonemia, Pancreatitis, Respiratory distress	ORPHA:79312
Hemochromatosis, Type 1	Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Cardiomegal...	OMIM:235200
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Agammaglobulinemia, Sinusitis, Conjunctivitis, Bronch...	ORPHA:33110
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg...	ORPHA:57777
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi...	OMIM:256550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Jaundice, Abnormal immunoglobulin level, Increased circulating IgG leve...	ORPHA:276
Congenital Disorder Of Glycosylation, Type Ie	Telangiectasia, Elevated circulating creatine kinase concentration, Respiratory distress	OMIM:608799
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hyperalaninemia, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia	ORPHA:927
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Recurrent lower respiratory tract infections, Crohn's disease, Arthritis, Decreased circulating a...	OMIM:616100
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Respiratory distress, Pleural effusion, Apnea, Cyanosis	OMIM:261740
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Recurrent respiratory infections, Elevated circulating creatine kinase concentration, Respiratory...	ORPHA:329178
Idiopathic Neonatal Atrial Flutter	Tachypnea, Respiratory distress	ORPHA:45452
Ethylene Glycol Poisoning	Pulmonary edema, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress	ORPHA:31826
Hypophosphatasia	Emphysema	ORPHA:436
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Pulmonary hypoplasia, Respiratory distress	OMIM:151210
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Respiratory distress	OMIM:615597
T-Cell Immunodeficiency With Thymic Aplasia	Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections	OMIM:242700
Folinic Acid-Responsive Seizures	Apnea, Respiratory distress	ORPHA:79097
Rh Deficiency Syndrome	Hypoxemia, Tachypnea, Miscarriage, Jaundice	ORPHA:71275
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Dyspnea, Conjunctival tel...	OMIM:610655
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Recurrent pneumonia, Resp...	OMIM:616433
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Gaucher Disease, Perinatal Lethal	Purpura, Respiratory distress, Petechiae, Apnea, Pulmonary hypoplasia, Neonatal death	OMIM:608013
Melioidosis	Lung abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Respiratory...	ORPHA:31202
Complete Atrioventricular Septal Defect	Tachypnea, Recurrent pneumonia, Intercostal retractions, Cyanosis	ORPHA:1329
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Hypocalcemia, Decreased circulating IgG level, Recurrent pneumonia, Recurre...	OMIM:607143
Short-Rib Thoracic Dysplasia 12	Pulmonary hypoplasia, Neonatal death, Atelectasis	OMIM:269860
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D...	ORPHA:42
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of specific...	OMIM:618986
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Angioedema, Emphysema, Dyspnea	ORPHA:36412
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape, Cyanosis	OMIM:610773
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Bronchitis, Coarctation of aorta, Pulmonary ...	ORPHA:1199
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase...	OMIM:201475
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Osteomyelitis, Recurrent upper respiratory tract infections	OMIM:608184
Meckel Syndrome 14	Pneumothorax, Cyanosis, Pulmonary hypoplasia	OMIM:619879
Ciliary Dyskinesia, Primary, 43	Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract...	OMIM:618699
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Immunodeficiency 92	Cholangitis, Sclerosing cholangitis, Esophagitis, Partial absence of specific antibody response t...	OMIM:619652
Postinfectious Vasculitis	Gastrointestinal inflammation, Palpable purpura, Increased circulating antibody level, Elevated c...	ORPHA:48435
Fructose-1,6-Bisphosphatase Deficiency	Hyperuricemia, Respiratory distress, Dyspnea, Hyperalaninemia, Neonatal hyperbilirubinemia, Inter...	ORPHA:348
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Coccidioidomycosis	Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Respiratory distress, Increased circula...	ORPHA:228123
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Cyanosis, Exertional dyspnea, Palate telangiectas...	OMIM:187300
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent bronchopulmonary infections, Increased circulating IgM level, Rec...	OMIM:617303
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Exertional dyspnea, Cardiac total anoma...	ORPHA:99125
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Juvenile Neuronal Ceroid Lipofuscinosis	Episodic tachypnea, Apnea, Aspiration pneumonia	ORPHA:79264
Atrial Septal Defect, Ostium Secundum Type	Exertional dyspnea, Dyspnea, Orthopnea, Pneumonia, Cyanosis	ORPHA:99103
Odontochondrodysplasia	Death in infancy, Respiratory distress	ORPHA:166272
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Usual interstitial pneumonia, Dyspnea, Pulmonary fibrosis	OMIM:620367
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Atelectasis, Hypokalemia, Periodontitis, Azoospermia, Arthritis,...	ORPHA:534
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Elevated circulating C-reactive protein co...	ORPHA:829
Hsd10 Disease, Infantile Type	Hyperammonemia, Cyanosis	ORPHA:391428
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Death in infancy, Tachypnea, Respiratory distress	OMIM:614299
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper...	OMIM:255120
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Chylothorax, Death in childhood, Death in infancy, Respiratory distress	OMIM:620278
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Recurrent respiratory infections, Respiratory distress	OMIM:619383
Aortic Arch Interruption	Exertional dyspnea, Respiratory distress, Aortopulmonary window, Abnormal ascending aorta morphol...	ORPHA:2299
Acquired Purpura Fulminans	Macular purpura, Skin rash, Elevated circulating C-reactive protein concentration, Acrocyanosis	ORPHA:49566
Hyperimmunoglobulinemia D With Periodic Fever	Purpura, Recurrent aphthous stomatitis, Arthritis, Increased circulating IgA level, Urticaria, Pe...	ORPHA:343
Netherton Syndrome	Emphysema, Skin rash, Decreased circulating antibody level, Increased circulating IgE level, Ecze...	ORPHA:634
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Radio-Renal Syndrome	Chylothorax, Pleural effusion, Dyspnea, Respiratory distress	ORPHA:3015
Immunodeficiency With Hyper-Igm, Type 1	Hypoxemia, Recurrent lower respiratory tract infections	OMIM:308230
Mogs-Cdg	Hypoventilation, Pulmonary edema, Respiratory distress, Decreased circulating antibody level, Dec...	ORPHA:79330
Infantile-Onset X-Linked Spinal Muscular Atrophy	Mildly elevated creatine kinase, Respiratory distress	ORPHA:1145
Cardiomyopathy, Familial Hypertrophic, 4	Pulmonary edema, Dyspnea, Respiratory distress	OMIM:115197
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis	ORPHA:335
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Hypercapnia, Apneic episodes in infancy	OMIM:618222
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Ascending tubular aorta aneurysm, Poor wound healing, Recurrent respiratory infections...	OMIM:219100
Bickerstaff Brainstem Encephalitis	Pneumonia, Hypercapnia, Respiratory tract infection, Dyspnea	ORPHA:79138
Immunodeficiency 110 With Lymphoproliferation	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Chronic mucocutaneou...	OMIM:614868
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Decreased circulating carnitine concentration, Hyperlysinemia, Aspiration pneumonia...	ORPHA:431361
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Atelectasis, Pulmonary hypoplasia, Pulmonary artery atresia	OMIM:620371
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Enteroviral h...	OMIM:307200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Pancreatitis, Respiratory distress, Hyperammonemia, Hyperglycinemia, Tubu...	OMIM:251000
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Timothy Syndrome	Pneumonia, Bronchitis, Hypocalcemia	OMIM:601005
Sickle Cell Disease	Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas...	OMIM:603903
Thyroid Lymphoma	Hashimoto thyroiditis, Dyspnea, Respiratory distress	ORPHA:97285
Cryptococcosis	Pneumonia, Prostatitis, Respiratory distress, Pleural effusion, Dyspnea, Peritonitis, Nodular pat...	ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Left ventricula...	OMIM:617713
Eosinophilic Fasciitis	Myositis, Arthritis, Fasciitis, Acrocyanosis	ORPHA:3165
Autosomal Dominant Severe Congenital Neutropenia	Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Pneum...	ORPHA:486
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Long-Olsen-Distelmaier Syndrome	Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ...	OMIM:620609
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis	ORPHA:3304
Isolated Atp Synthase Deficiency	Hyperammonemia, Hyperalaninemia, Respiratory distress	ORPHA:254913
Necrotizing Enterocolitis	Hyponatremia, Apnea, Peritonitis, Cyanosis	ORPHA:391673
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Neonatal Marfan Syndrome	Aortic root aneurysm, Hypoxemia, Ascending tubular aorta aneurysm, Emphysema	ORPHA:284979
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Pulmonary artery atresia, Aortopulmonary collateral arteries, Double aortic arch	OMIM:618780
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Cardiogenic Shock	Hypoxemia, Cyanosis, Dyspnea, Orthopnea	ORPHA:97292
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Irregular respiration, Death in infancy, Respiratory distress	OMIM:604377
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Muscular Dystrophy, Congenital, With Or Without Seizures	Elevated circulating creatine kinase concentration, Respiratory distress	OMIM:620166
Malignant Hyperthermia, Susceptibility To, 5	Hypercapnia	OMIM:601887
Purine Nucleoside Phosphorylase Deficiency	Recurrent lower respiratory tract infections, Hypouricemia, Increased circulating guanosine conce...	OMIM:613179
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent lower respiratory tract infections, Decreased circulating antibody level, Interstitial ...	OMIM:615952
Arterial Tortuosity Syndrome	Aortic aneurysm, Aortic root aneurysm, Respiratory distress, Prematurely aged appearance, Dyspnea...	ORPHA:3342
Diaphanospondylodysostosis	Pulmonary hypoplasia, Respiratory distress	OMIM:608022
Tetanus	Tachypnea, Elevated circulating creatine kinase concentration, Respiratory distress	ORPHA:3299
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Emphysema, Premature skin wrinkling, Coronary artery atherosclerosis, ...	ORPHA:363618
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Respiratory di...	ORPHA:98915
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Cholangitis, Respiratory distress, Arthritis, Pleural effusion, Dyspnea, Eczematoid...	ORPHA:3260
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Pulmonary edema, Increased circulating interleukin 6 concentration, Acute tubuloint...	ORPHA:340
Cocaine Intoxication	Pneumothorax, Pulmonary edema, Hyperventilation, Respiratory distress, Elevated circulating creat...	ORPHA:90068
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Bloom Syndrome	Cheilitis, Azoospermia, Cutaneous photosensitivity, Bronchitis, Skin rash, Decreased circulating ...	ORPHA:125
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Decr...	OMIM:300755
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Selective Igm Deficiency	Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibody response to vacc...	ORPHA:331235
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
22Q11.2 Deletion Syndrome	Chronic otitis media, Abnormal lung lobation, Purpura, Atelectasis, Hypocalcemia, Seborrheic derm...	ORPHA:567
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Generalized abnormality of skin, Hypoalbuminemia, Respiratory distress	ORPHA:367
Cystic Echinococcosis	Abnormal pulmonary thoracic imaging finding, Jaundice, Increased circulating antibody level, Hype...	ORPHA:400
Chronic Visceral Acid Sphingomyelinase Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Abnormal blood gas level, C...	ORPHA:77293
Achondroplasia	Death in infancy, Pulmonary hypoplasia, Respiratory distress	OMIM:100800
Tarp Syndrome	Apnea, Cyanosis, Pulmonary hypoplasia	ORPHA:2886
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Respiratory distress	ORPHA:226313
Good Syndrome	Decreased circulating antibody level, Dyspnea, Sinusitis, Bronchiectasis, Recurrent skin infectio...	ORPHA:169105
Cholera	Hypokalemia, Hypocalcemia, Aspiration pneumonia, Hyponatremia, Abnormal blood ion concentration, ...	ORPHA:173
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Familial Dysautonomia	Recurrent respiratory infections, Abnormal pleura morphology, Acrocyanosis	ORPHA:1764
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory tract infection, Elevated circulating creatine kinase concentration, Respiratory dist...	ORPHA:308552
Refsum Disease, Classic	Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly	OMIM:266500
Combined Immunodeficiency Due To Zap70 Deficiency	Chronic oral candidiasis, Stomatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent bac...	ORPHA:911
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess	OMIM:619223
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Decreased circulating antibody level, Agammaglo...	OMIM:601495
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Respiratory distress, Increased blood urea nitrogen, Prolonged neonatal jaundice, Eleva...	OMIM:274150
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Acrocyanosis, Elevated circulating creatinine concentration, Recur...	OMIM:223900
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Recurrent...	OMIM:615468
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G...	OMIM:600376
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hyperkalemia, Pancreatitis, Increased circulating interleukin 6 concentration, Pleur...	ORPHA:544482
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM...	OMIM:619705
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Recurrent respiratory infections	ORPHA:2282
Listeriosis	Myocarditis, Jaundice, Pyelonephritis, Arteritis, Respiratory distress, Pericarditis, Pustule, Se...	ORPHA:533
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Respiratory distress, Recurrent pneumonia, Pulmonary ...	ORPHA:209905
Chand Syndrome	Atelectasis	ORPHA:1401
Diabetic Embryopathy	Abnormality of the pulmonary artery, Abnormal aortic morphology	ORPHA:1926
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Brucellosis	Bronchitis, Pericarditis, Anterior uveitis, Myocarditis, Increased circulating IgG level, Septic ...	ORPHA:1304
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Palmoplantar cutis laxa, Neonatal death, Central apnea, Respiratory distress	OMIM:616482
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Cutis marmorata, Bronchiectasis, Reduced circulating interferon gamma concen...	OMIM:301220
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Respiratory di...	OMIM:251110
Klippel-Trénaunay Syndrome	Abnormality of the pulmonary artery	ORPHA:90308
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Erythema, Abnormal pleura morphology, Respiratory distress	ORPHA:537
Histiocytoid Cardiomyopathy	Pulmonary edema, Tachypnea, Cyanosis	ORPHA:137675
Japanese Encephalitis	Pulmonary edema, Increased circulating antibody level, Respiratory distress, Irregular respiratio...	ORPHA:79139
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Jaundice, Panhypogammaglobulinemia, Chronic ...	ORPHA:79124
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Respiratory distress, Dyspnea, Coarctation of aorta, Palmoplantar cutis...	ORPHA:363705
Heterotaxy, Visceral, 1, X-Linked	Hypoplastic aortic arch, Respiratory distress, Total anomalous pulmonary venous return, Coarctati...	OMIM:306955
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Sinusitis, Recurre...	OMIM:102700
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis	OMIM:617239
Myasthenia Gravis	Myositis, Dyspnea, Rheumatoid arthritis, Hashimoto thyroiditis, Acrocyanosis, Hepatitis	ORPHA:589
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Recurrent otitis media, Gastritis, Decreased circulating total I...	OMIM:619381
Inhalational Anthrax	Dyspnea, Respiratory distress	ORPHA:247257
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Jaundice, Hypertyrosinemia, Respiratory distress, Hyperbilirubinemia, Conjugated hyperbilirubinem...	OMIM:617156
Shigellosis	Myocarditis, Abnormal blood ion concentration, Purpura, Acute colitis, Arthritis, Hyponatremia, U...	ORPHA:810
Biotinidase Deficiency	Respiratory distress, Skin rash, Eczematoid dermatitis, Hyperammonemia, Apnea, Conjunctivitis, Hy...	ORPHA:79241
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Achondroplasia	Hypoxemia	ORPHA:15
Osteogenesis Imperfecta, Type X	Recurrent pneumonia, Death in childhood, Respiratory distress	OMIM:613848
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly, Elevat...	ORPHA:465508
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Microsporidiosis	Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Bronchitis, Thyroiditis, Keratocon...	ORPHA:2552
Dextrocardia	Abnormality of the pulmonary artery, Abnormal pulmonary situs morphology, Abnormal lung lobation	ORPHA:1666
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Respiratory distress	OMIM:616271
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Elevated circulating long chain fatty acid concentration, Elevated...	OMIM:608836
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, Re...	ORPHA:83471
Dermatomyositis	Myocarditis, Abnormal pulmonary interstitial morphology, Facial erythema, V-sign, Cutaneous photo...	ORPHA:221
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Cardiomyopathy,...	ORPHA:228308
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Respiratory distress, Fragile skin, Hypoalbuminemia, ...	OMIM:614748
Congenital Syphilis	Myocarditis, Purpura, Pancreatitis, Petechiae, Synovitis, Prolonged neonatal jaundice, Rhinitis, ...	ORPHA:499009
Alfadhel Syndrome	Nasal flaring	OMIM:620655
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling, Respiratory distress	OMIM:615595
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Hypoxemia, Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, Increased circulating IgE level, Otitis media, Recurrent upper respirat...	OMIM:602450
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Recurrent aspiration pneumonia	ORPHA:79243
Meacham Syndrome	Stillbirth, Death in childhood, Cardiac total anomalous pulmonary venous connection, Scimitar ano...	OMIM:608978
Triosephosphate Isomerase Deficiency	Jaundice, Respiratory distress, Death in adolescence, Death in infancy, Prolonged neonatal jaundice	OMIM:615512
Ventilator-Induced Diaphragmatic Dysfunction	Hypercapnia	ORPHA:505395
Moebius Syndrome	Respiratory distress	OMIM:157900
X-Linked Mandibulofacial Dysostosis	Abnormality of the pulmonary artery	ORPHA:1131
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Omenn Syndrome	Pneumonia, Thyroiditis, Erythroderma	ORPHA:39041
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuosit...	OMIM:614816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, R...	OMIM:600802
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Apnea, Hyperglycinemia, Cyanosis	OMIM:620423
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Poems Syndrome	Plethora, Pleural effusion, Acrocyanosis	ORPHA:2905
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Skin rash, Punctate vasculitis skin lesions, Pneumonia, Elevated circulating creatinine concentra...	ORPHA:247691
Omenn Syndrome	Pneumonia, Hypoproteinemia, Erythroderma	OMIM:603554
Aicardi-Goutieres Syndrome 1	Purpura, Petechiae, Chilblains, Prolonged neonatal jaundice, Acrocyanosis, Erythema	OMIM:225750
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Recurrent lower respiratory tract infections, Hyperlipidemia, Hyponatremia, Recu...	ORPHA:293987
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Congenital Myopathy 22B, Severe Fetal	Pulmonary hypoplasia, Pleural effusion, Respiratory distress	OMIM:620369
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Nasolacrimal Duct Cyst	Episodic respiratory distress, Paroxysmal dyspnea, Chronic irritative conjunctivitis, Intercostal...	ORPHA:141083
Malignant Hyperthermia Of Anesthesia	Tachypnea, Hypercapnia	ORPHA:423
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Jaundice, Hyponatremia, Decreased circulating cortisol level, Pneumonia	ORPHA:90790
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Digeorge Syndrome	Recurrent otitis media, Atelectasis, Hypocalcemia, Seborrheic dermatitis, Recurrent sinusitis, Re...	OMIM:188400
Colchicine Poisoning	Myocarditis, Hypokalemia, Respiratory distress, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypop...	ORPHA:31824
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Pulmonary artery atresia, C...	OMIM:212093
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, S...	ORPHA:2298
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Respiratory distress, Abnormal mitochondrial shape, Apnea, Recurrent resp...	ORPHA:17
Leptospirosis	Jaundice, Respiratory distress, Optic neuritis, Skin rash, Pleural effusion, Pericarditis, Hyperp...	ORPHA:509
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Respiratory distress	OMIM:300968
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Oculocerebrofacial Syndrome, Kaufman Type	Dyspnea, Respiratory distress	ORPHA:2707
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Decreased circulating IgG level, Increased circulating IgM level, Conjuncti...	ORPHA:505248
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulating antibo...	ORPHA:293978
Mgat2-Cdg	Decreased circulating antibody level, Recurrent upper and lower respiratory tract infections, Dec...	ORPHA:79329
Mucoepithelial Dysplasia, Hereditary	Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Fibrocys...	OMIM:158310
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Gastrointestinal inflammation, Abnormal blood ion concentration, Pyoderma, Respirat...	ORPHA:79404
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exertional dyspnea, Death in childhood, Respiratory distress	OMIM:220110
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hypoxemia	ORPHA:456312
Bloom Syndrome	Facial erythema, Azoospermia, Malar rash, Cutaneous photosensitivity, Decreased circulating IgG l...	OMIM:210900
Kniest Dysplasia	Recurrent otitis media, Respiratory distress	OMIM:156550
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Igg4-Related Kidney Disease	Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated circulating crea...	ORPHA:449395
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Aspiration pneumonia	OMIM:619167
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hyperammonemia, Methylmalonic acidemia, Hyperglycinemia	OMIM:251100
Criss-Cross Heart	Cyanosis	ORPHA:1461
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy	ORPHA:268
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Meier-Gorlin Syndrome 1	Death in infancy, Emphysema, Respiratory distress	OMIM:224690
Hereditary Angioedema Type 1	Urticaria, Dyspnea, Dermatographic urticaria, Respiratory distress	ORPHA:100050
Eisenmenger Syndrome	Exertional dyspnea, Respiratory distress, Aortopulmonary window, Hypoxemia, Cyanosis	ORPHA:97214
Spondyloenchondrodysplasia With Immune Dysregulation	Purpura, Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent s...	OMIM:607944
Alpha-Mannosidosis, Adult Form	Pneumonia	ORPHA:309288
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Cyanosis, Death in infancy	OMIM:252010
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis	ORPHA:231154
Hennekam-Beemer Syndrome	Pneumonia, Urticaria, Telangiectasia of the skin, Erythema	ORPHA:2135
Aicardi-Goutieres Syndrome 7	Recurrent lower respiratory tract infections, Increased circulating antibody level, Arthritis, Sk...	OMIM:615846
Geleophysic Dysplasia 3	Pneumonia, Dyspnea	OMIM:617809
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Pneumonia	ORPHA:169090
Oculopharyngodistal Myopathy 1	Hypercapnia, Respiratory distress	OMIM:164310
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothorax, Recu...	OMIM:130050
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hypotriglyceridemia, Hyperbilirubi...	ORPHA:14
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Pagod Syndrome	Abnormal aortic morphology, Death in infancy, Pulmonary artery hypoplasia, Pulmonary hypoplasia, ...	ORPHA:991
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Jaundice, Hyperhomocystinemia, Stomatitis, Respiratory distress, Elevated...	ORPHA:79282
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:614921
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspnea, Aspiration pneumonia, Keratitis, Tracheobronchial leiomyomatosis, Recurrent respiratory ...	ORPHA:1018
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Fucosidosis	Vascular skin abnormality, Acrocyanosis	ORPHA:349
Congenital Disorder Of Deglycosylation 1	Recurrent respiratory infections, Hyperalaninemia, Elevated circulating alpha-fetoprotein concent...	OMIM:615273
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Interstitial pneumonitis, Dyspnea, Pulmonary fibrosis	OMIM:127550
Cystic Fibrosis	Steatorrhea, Pancreatitis, Recurrent bronchopulmonary infections, Nasal polyposis, Recurrent pneu...	OMIM:219700
Mirage Syndrome	Hyperkalemia, Hyponatremia, Petechiae, Aspiration pneumonia	OMIM:617053
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Respiratory distress	OMIM:618733
Keutel Syndrome	Emphysema, Recurrent bronchitis, Miscarriage, Pulmonary artery hypoplasia, Peripheral pulmonary a...	OMIM:245150
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Tuberous Sclerosis Complex	Generalized abnormality of skin, Respiratory distress, Aortic aneurysm, Respiratory tract infecti...	ORPHA:805
Pachyonychia Congenita	Angular cheilitis, Respiratory distress	ORPHA:2309
Acute Radiation Syndrome	Interstitial pneumonitis, Inflammatory abnormality of the skin, Telangiectasia	ORPHA:454831
Congenital Myopathy 13	Hypoxemia, Hypercapnia	OMIM:255995
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema	ORPHA:90349
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Spondyloenchondrodysplasia	Arthritis, Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis	ORPHA:1855
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Prader-Willi Syndrome Due To Translocation	Recurrent respiratory infections, Respiratory distress	ORPHA:177907
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Neuroblastoma	Increased circulating ferritin concentration, Respiratory distress	ORPHA:635
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets	OMIM:208000
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Infantile Krabbe Disease	Respiratory distress	ORPHA:206436
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom...	OMIM:602782
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Aspiration pneumonia	OMIM:619482
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Gm1 Gangliosidosis	Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia	ORPHA:354
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Plague	Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, Skin rash,...	ORPHA:707
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Increased B cell cou...	OMIM:620376
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Cystic Fibrosis	Pneumothorax, Steatorrhea, Recurrent lower respiratory tract infections, Nasal polyposis, Sinusit...	ORPHA:586
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, As...	ORPHA:94093
Noonan Syndrome With Multiple Lentigines	Abnormality of the pulmonary artery, Excessive wrinkled skin	ORPHA:500
Sickle Cell Anemia	Hypoxemia, Jaundice	ORPHA:232
Gaucher Disease, Type Ii	Apnea, Recurrent aspiration pneumonia, Bronchiolitis	OMIM:230900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress	ORPHA:2519
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Shwachman-Diamond Syndrome	Steatorrhea, Increased serum bile acid concentration, Hypoamylasemia, Skin rash, Eczematoid derma...	ORPHA:811
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Periorbital wrinkles, Eczematoid dermatitis, Rhinitis, Hypohidrotic ectoder...	OMIM:305100
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Death in childhood, Emphysema, Aortic root aneurysm, Ascending tubular...	OMIM:614437
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Prolonged neonatal jaundice, J...	OMIM:256810
Proximal Spinal Muscular Atrophy	Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to aspiration	ORPHA:70
Acute Liver Failure	Jaundice, Abnormal pattern of respiration, Bruising susceptibility, Hypocapnia, Hyperventilation	ORPHA:90062
Alternating Hemiplegia Of Childhood	Flushing, Apnea, Respiratory distress	ORPHA:2131
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Decreased circulating total IgG, Arthritis, Decreased circulating total...	ORPHA:221139
Autosomal Dominant Cutis Laxa	Emphysema, Premature skin wrinkling, Aortic aneurysm, Prematurely aged appearance, Bronchiolitis,...	ORPHA:90348
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress	OMIM:217980
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia	OMIM:619708
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Respiratory distress	OMIM:123790
Fabry Disease	Emphysema, Dyspnea, Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Mucos...	ORPHA:324
Mitochondrial Dna-Associated Leigh Syndrome	Hyperalaninemia, Dyspnea, Apnea, Low plasma citrulline, Episodic respiratory distress, Hyperventi...	ORPHA:255210
Chronic Thromboembolic Pulmonary Hypertension	Exertional dyspnea, Hypocapnia	ORPHA:70591
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoxemia	ORPHA:556955
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Generalized abnormality of skin, Respiratory distress, Skin rash, ...	ORPHA:95455
Adnp Syndrome	Respiratory distress, Recurrent upper respiratory tract infections	ORPHA:404448
Kasabach-Merritt Phenomenon	Petechiae, Purpura, Hypopnea, Respiratory distress	ORPHA:2330
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy	OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Pitt-Hopkins Syndrome	Abnormal pattern of respiration, Acrocyanosis, Esophagitis, Hyperventilation	ORPHA:2896
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Respiratory distress, Recurrent aspiration pneumoni...	OMIM:616268
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopenia, Splenomegaly...	OMIM:619991
Exercise-Induced Malignant Hyperthermia	Tachypnea, Flushing, Hypocapnia	ORPHA:466650
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress	OMIM:183900
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Emphysema	OMIM:616835
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltr...	ORPHA:83617
Shwachman-Diamond Syndrome 1	Steatorrhea, Respiratory distress	OMIM:260400
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ...	OMIM:252500
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Aspiration pneumonia	ORPHA:845
Ramos-Arroyo Syndrome	Keratitis, Respiratory distress	ORPHA:1051
Sarcoidosis	Pneumothorax, Keratoconjunctivitis sicca, Emphysema, Chylothorax, Abnormal nasal mucosa morpholog...	ORPHA:797
Fucosidosis	Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:230000
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Tachypnea, Recurrent respiratory infections, Apnea, Recurrent aspiration pneumonia	ORPHA:397715
Leukocyte Adhesion Deficiency	Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Recurrent aphthous s...	ORPHA:2968
Fanconi Anemia, Complementation Group F	Pneumonia	OMIM:603467
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Hyperoxaluria, Primary, Type I	Cutis marmorata, Peripheral arterial stenosis, Acrocyanosis	OMIM:259900
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pustule, Respiratory tract infection, Pneumonia, Infectious encephalitis	ORPHA:68
Marfan Syndrome	Pneumothorax, Emphysema, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic dissectio...	OMIM:154700
Campomelic Dysplasia	Respiratory distress, Apnea, Recurrent lower respiratory tract infections, Recurrent upper respir...	OMIM:114290
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis, Pulmonary artery atresia, Double aortic arch	ORPHA:216694
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Exertional dyspnea, Premature skin wrinkling, Prominent superfic...	ORPHA:740
Rubinstein-Taybi Syndrome 1	Respiratory distress, Aortic isthmus hypoplasia, Coarctation of aorta, Vascular ring, Respiratory...	OMIM:180849
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Cornelia De Lange Syndrome 1	Pneumonia, Cutis marmorata, Otitis media	OMIM:122470
Gitelman Syndrome	Hypermagnesemia, Hypokalemia, Respiratory distress, Hypocalcemia, Hashimoto thyroiditis, Primary ...	ORPHA:358
Chops Syndrome	Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Aicardi-Goutières Syndrome	Panniculitis, Myositis, Arthritis, Increased circulating interferon-gamma concentration, Chilblai...	ORPHA:51
Ellis Van Creveld Syndrome	Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Respiratory distress, Aortic dissection, Arterial calcification, Medi...	ORPHA:51608
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Abnormal myocar...	ORPHA:581
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pulmonary artery stenosis, Respiratory distress, Interrupted aortic arch	ORPHA:2255
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Atypical Werner Syndrome	Premature arteriosclerosis, Premature graying of hair, Coronary artery atherosclerosis, Premature...	ORPHA:79474
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Abnormal pulmonary interstitial morphology, Emphysema	OMIM:613658
Schinzel-Giedion Syndrome	Recurrent pneumonia, Pulmonary hypoplasia, Respiratory distress	ORPHA:798
Marfan Syndrome	Emphysema, Aortic aneurysm, Aortic root aneurysm, Ascending tubular aorta aneurysm, Aortic tortuo...	ORPHA:558
Gm1 Gangliosidosis Type 1	Aspiration pneumonia	ORPHA:79255
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia	ORPHA:73230
Marshall-Smith Syndrome	Apnea, Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract in...	OMIM:602535
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections	OMIM:253200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
8Q24.3 Microdeletion Syndrome	Abnormal lung lobation, Coarctation of aorta, Hypoplastic aortic arch, Respiratory distress	ORPHA:508488
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Alpha-Mannosidosis, Infantile Form	Pneumonia, Otitis media	ORPHA:309282
Ulbright-Hodes Syndrome	Pneumothorax, Pulmonary hypoplasia, Respiratory distress	ORPHA:3404
Ear-Patella-Short Stature Syndrome	Dyspnea, Respiratory distress	ORPHA:2554
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Miscarriage, Hypocapnia	ORPHA:90794
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Microphthalmia With Linear Skin Defects Syndrome	Dyspnea, Erythema, Respiratory distress	ORPHA:2556
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Aspiration pneumonia	OMIM:301072
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Premature skin wrinkling, Prematurely aged appearance, Prominent scalp vein...	OMIM:264090
Classical Ehlers-Danlos Syndrome	Aortic root aneurysm, Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Bruisi...	ORPHA:287
Degcags Syndrome	Pneumonia, Hyperbilirubinemia, Rhinitis, Premature graying of hair	OMIM:619488
Doors Syndrome	Aspiration pneumonia, Respiratory distress	ORPHA:79500
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia, Elevated circu...	ORPHA:280633
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Niemann-Pick Disease Type C	Abnormal lung morphology, Pulmonary infiltrates, Aspiration pneumonia, Jaundice	ORPHA:646
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Polycythemia, Splenome...	ORPHA:116
Viss Syndrome	Pneumothorax, Pulmonary artery aneurysm, Emphysema, Abnormal branching pattern of the aortic arch...	OMIM:619472
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology	ORPHA:97297
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Fontaine Progeroid Syndrome	Pneumothorax, Premature skin wrinkling, Prematurely aged appearance, Reduced subcutaneous adipose...	OMIM:612289
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia	OMIM:247200
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly	OMIM:130650
Coffin-Siris Syndrome	Aspiration pneumonia, Recurrent upper respiratory tract infections	ORPHA:1465
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
Alobar Holoprosencephaly	Abnormal pattern of respiration, Central apnea, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal pattern of respiration, Central apnea, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Abnormal pattern of respiration, Central apnea, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Abnormal pattern of respiration, Central apnea, Aspiration pneumonia	ORPHA:220386
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Coarctation of aorta, Respiratory distress	OMIM:617088
Williams Syndrome	Abnormal circulating lipid concentration, Abnormal endocardium morphology, Cardiomegaly, Elevated...	ORPHA:904
Hypermobile Ehlers-Danlos Syndrome	Aortic root aneurysm, Ascending tubular aorta aneurysm, Apnea, Acrocyanosis, Bruising susceptibility	ORPHA:285
Stüve-Wiedemann Syndrome	Apnea, Respiratory distress	ORPHA:3206
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Recurrent upper and lower respiratory tract infections, Respiratory distress	ORPHA:480880
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia	ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Decreased circulating iron concentration, Aspiration pneumonia	ORPHA:438213
Lafora Disease	Severe photosensitivity, Recurrent aspiration pneumonia	ORPHA:501
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aspiration pneumonia	ORPHA:444077
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect	ORPHA:3472
Alström Syndrome	Hypertriglyceridemia, Pancreatitis, Respiratory distress, Chronic bronchitis, Oligozoospermia, Hy...	ORPHA:64
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Peters Plus Syndrome	Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology	ORPHA:709
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Unilateral lung agenesis	ORPHA:500150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353277
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Recurrent pneumonia, Respiratory distress	ORPHA:99646
Pmm2-Cdg	Abnormal subcutaneous fat tissue distribution, Respiratory distress, Reduced thyroxin-binding glo...	ORPHA:79318
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent aspiration pneumonia, Septic arthritis, Bruising susceptibility, Fasciitis, Osteomyelitis	ORPHA:642
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia	OMIM:147920
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Abnormality of the pulmonary artery, Coarctation of aorta, Pulmonary artery sling	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormality of the pulmonary artery, Coarctation of aorta, Pulmonary artery sling	ORPHA:261552
Yunis-Varon Syndrome	Aspiration pneumonia	OMIM:216340

Histopathology

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

There is no histopathology data for Wfdc2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wfdc2.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
LAMA: automated image analysis for the developmental phenotyping of mouse embryos.	Development (Cambridge, England) (March 2021)	Wfdc2^em1(IMPC)H	PMC8015254
Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice.	Disease models & mechanisms (November 2019)	Wfdc2^{tm1a(EUCOMM)Hmgu}	PMC6899016
Colonic epithelial cell diversity in health and inflammatory bowel disease.	Nature (February 2019)	Wfdc2^em1(IMPC)H	30814735
Non-human lnc-DC orthologs encode Wdnm1-like protein.	F1000Research (July 2014)	Wfdc21^{tm1a(KOMP)Wtsi}	PMC4184305

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Wfdc2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Wfdc2^em1(IMPC)H	Exon Deletion	Mice
Wfdc2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Wfdc2 MGI:1914951

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

X-ray

MicroCT E14.5-E15.5

X-ray

X-ray

Human diseases caused by Wfdc2 mutations

Histopathology

IMPC related publications

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