Gene: Foxf1 MGI:1347470

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

forkhead box F1

Synonyms:

HFH-8, Freac-1, Hfh8, Foxf1, Foxf1a, FREAC1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxf1 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 Foxf1 (2 diseases)
Human diseases predicted to be associated with Foxf1 (1298 diseases)

The table below shows human diseases associated to Foxf1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Alveolar Capillary Dysplasia		Pulmonary arterial hypertension, Patent ductus arteriosus, Asplenia, Absent gallbladder, Respirat...	ORPHA:210122
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins		Asplenia, Pulmonary artery dilatation, Pleural effusion, Pulmonary artery stenosis, Misalignment ...	OMIM:265380

The table below shows human diseases predicted to be associated to Foxf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pulmonary Blastoma	Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough	ORPHA:64741
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo...	OMIM:265450
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v...	OMIM:234810
Tuberculosis	Cough, Weight loss, Abnormal lung morphology	ORPHA:3389
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Idiopathic Achalasia	Bronchitis, Weight loss, Recurrent aspiration pneumonia, Cough, Wheezing	ORPHA:930
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Muscular Hypertonia, Lethal	Pneumonia, Respiratory distress, Death in infancy	OMIM:254120
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal biliary tract morphology, Abnormal li...	ORPHA:3032
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Apnea, Neonatal death, Pulmonary hypoplasia	OMIM:615228
Bronchopulmonary Dysplasia	Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ...	ORPHA:70589
Immunodeficiency 51	Recurrent cutaneous fungal infections, Recurrent respiratory infections, Chronic oral candidiasis...	OMIM:613953
Ciliary Dyskinesia, Primary, 21	Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren...	OMIM:615294
Pleural Mesothelioma	Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist...	ORPHA:50251
Meckel Syndrome, Type 6	Absent gallbladder, Hepatic fibrosis, Pulmonary hypoplasia, Bilobed right lung, Bile duct prolife...	OMIM:612284
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Ciliary Dyskinesia, Primary, 33	Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon...	OMIM:616726
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Ciliary Dyskinesia, Primary, 29	Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi...	OMIM:615872
Immunodeficiency 104	Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Otitis media, Failure to thriv...	OMIM:608971
Surfactant Metabolism Dysfunction, Pulmonary, 1	Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti...	OMIM:265120
Mucus Inspissation Of Respiratory Tract	Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection...	OMIM:253240
Combined Oxidative Phosphorylation Deficiency 8	Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Congestive heart failure, Hyper...	OMIM:614096
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Idiopathic Bronchiectasis	Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys...	ORPHA:60033
Immunodeficiency 48	Recurrent respiratory infections, Failure to thrive, Hepatomegaly, Eczematoid dermatitis, Pneumon...	OMIM:269840
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress	ORPHA:141152
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy...	OMIM:267450
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respiratory tract in...	OMIM:263000
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe...	OMIM:178500
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec...	OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 3	Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em...	OMIM:610921
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Pulmonary insufficiency, Pulmonary hypoplasia, Tracheomalacia, Neonata...	OMIM:245650
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal respiratory distress, Neonatal de...	OMIM:619003
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis...	OMIM:615067
Allergic Bronchopulmonary Aspergillosis	Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Weight loss, Asthma, ...	ORPHA:1164
Recurrent Respiratory Papillomatosis	Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Upper airway obstr...	ORPHA:60032
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp...	ORPHA:79127
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia, Abnormal...	ORPHA:99050
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ...	ORPHA:1303
Klippel-Trénaunay Syndrome	Respiratory insufficiency, Pulmonary embolism, Patent ductus arteriosus, Congestive heart failure...	ORPHA:90308
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pu...	OMIM:613490
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Atopic dermatitis, Osteomyelitis, Weight loss, Recurrent upper and lower respirat...	ORPHA:171876
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Neonatal death	OMIM:611369
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia, Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:1335
Ciliary Dyskinesia, Primary, 23	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:615451
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Otitis media, Chronic sinusitis, Atelectasis	OMIM:300455
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic fibrosis, Truncus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia, Mal...	OMIM:615415
Scimitar Syndrome	Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Heart block, Abnormal vena cava morpholog...	ORPHA:185
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Elevated circulating alanine aminotransferase concentration, Portal inflammation, Hepatic bridgin...	OMIM:613759
Ciliary Dyskinesia, Primary, 9	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Recurrent o...	OMIM:612444
Biliary Atresia, Extrahepatic	Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Jaundice, Elevated hepatic tra...	OMIM:210500
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,...	OMIM:610913
Interstitial Lung Disease 1	Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev...	OMIM:619611
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:1208
Familial Nasal Acilia	Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir...	ORPHA:922
Hereditary Pulmonary Alveolar Proteinosis	Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz...	ORPHA:264675
Emphysema, Hereditary Pulmonary	Chronic bronchitis, Chronic pulmonary obstruction, Emphysema	OMIM:130700
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Heart Defects-Limb Shortening Syndrome	Abnormality of the pulmonary artery	ORPHA:1354
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Respiratory insufficiency, Abnormal aortic morphology, Abnormality of the pulmonary artery, Crypt...	ORPHA:1166
Primary Pulmonary Hypoplasia	Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Failure to t...	ORPHA:2257
Ciliary Dyskinesia, Primary, 27	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615504
Severe Acute Respiratory Syndrome	Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati...	ORPHA:140896
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir...	OMIM:618781
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia	OMIM:265150
Primary Ciliary Dyskinesia	Asplenia, Bronchiectasis, Productive cough, Airway obstruction, Abnormal inferior vena cava morph...	ORPHA:244
Congenital Tracheomalacia	Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ...	ORPHA:95430
Benign Recurrent Intrahepatic Cholestasis	Cholelithiasis, Cirrhosis, Weight loss, Jaundice, Hepatocellular carcinoma, Elevated hepatic tran...	ORPHA:65682
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Hepatomegaly, Interr...	ORPHA:860
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Hypertension, Pulmonary hypoplasia, Respiratory distress	OMIM:616733
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Patent ductus arteriosus, Asplenia, Absent gallbladder, Respirat...	ORPHA:210122
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i...	OMIM:616414
Gaucher Disease Type 2	Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough, Recurrent respirato...	ORPHA:77260
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Exertional dyspnea, Hemothorax, Pulmonary edema, Hypoxemia, P...	ORPHA:199241
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Microphthalmia, Syndromic 12	Pulmonary hypoplasia, Cryptorchidism	OMIM:615524
Chronic Beryllium Disease	Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal respi...	ORPHA:133
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Patent ductus arteriosus	OMIM:616867
Mounier-Kühn Syndrome	Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections	ORPHA:3347
Pulmonary Hypertension, Primary, 1	Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Arterial ...	OMIM:178600
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Pulmonary insufficiency, Exertional dyspnea, Bronchie...	ORPHA:2032
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis	OMIM:618806
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Chronic bronchitis, Bronchiectasis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Chronic bronchitis, Bronchiectasis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Chronic bronchitis, Bronchiectasis	OMIM:211400
Ciliary Dyskinesia, Primary, 46	Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent otitis media, Recur...	OMIM:619436
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Stillbirth, Deat...	OMIM:619751
Young Syndrome	Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai...	OMIM:279000
Atrial Septal Defect, Sinus Venosus Type	Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc...	ORPHA:99105
Combined Immunodeficiency, X-Linked	Pneumonia, Sinusitis, Otitis media, Recurrent bronchitis	OMIM:312863
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis med...	OMIM:618254
Ciliary Dyskinesia, Primary, 28	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615505
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, Jaundice, Elevate...	ORPHA:30391
Ciliary Dyskinesia, Primary, 11	Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus...	OMIM:612649
Ciliary Dyskinesia, Primary, 25	Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Chronic pulmon...	OMIM:615482
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aort...	OMIM:601612
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat...	OMIM:613642
Ciliary Dyskinesia, Primary, 3	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat...	OMIM:608644
Ciliary Dyskinesia, Primary, 42	Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr...	OMIM:618695
Infant Acute Respiratory Distress Syndrome	Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem...	ORPHA:70587
Heart Defects, Congenital, And Other Congenital Anomalies	Patent ductus arteriosus, Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Truncus art...	OMIM:600001
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia, Hypoxemia, Respiratory distress	ORPHA:2140
Gallbladder Disease 1	Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm...	OMIM:600803
Low Phospholipid-Associated Cholelithiasis	Biliary cirrhosis, Liver abscess, Sclerosing cholangitis, Neoplasm of the liver, Hepatocellular c...	ORPHA:69663
Microlissencephaly	Pneumonia	ORPHA:1083
Meconium Aspiration Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Hyp...	ORPHA:70588
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Ciliary Dyskinesia, Primary, 26	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615500
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi...	ORPHA:411703
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Splenomegaly, Jaundice, Epistaxis, Failure to thrive, Hepatomegaly, Cholelithiasis, In...	OMIM:211600
Lymphoid Interstitial Pneumonia	Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Crackles, Multiple pulmonary cysts, Hepatomeg...	ORPHA:79128
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia	OMIM:178370
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch...	OMIM:612387
Congenital Rubella Syndrome	Patent ductus arteriosus, Skin rash, Jaundice, Abnormality of the pulmonary artery, Hepatomegaly,...	ORPHA:290
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Neonatal death, Tetralogy of Fallot, Pulmonary hypoplasia	OMIM:617925
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno...	OMIM:106700
Ciliary Dyskinesia, Primary, 7	Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent...	OMIM:611884
Slc35A1-Cdg	Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abnormal bleeding...	ORPHA:238459
Cryptogenic Organizing Pneumonia	Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,...	ORPHA:1302
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Rigid Spine Syndrome	Respiratory insufficiency, Pneumonia, Cardiac conduction abnormality, Abnormality on pulmonary fu...	ORPHA:97244
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem...	ORPHA:178320
Absence Of The Pulmonary Artery	Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Pulmonary hypoplasia, Abnormal inferio...	ORPHA:980
Asbestos Intoxication	Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Nonpro...	ORPHA:2302
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism, Miscarriage	ORPHA:82
Ciliary Dyskinesia, Primary, 24	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon...	OMIM:615481
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, Congestive ...	ORPHA:2414
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Tracheobronchopathia Osteochondroplastica	Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator...	ORPHA:3348
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Cholestasis, Annular ...	OMIM:615710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Conjunctivitis, Purulent rhinitis, Arthritis, Failure to thrive, Otitis media, Failure to thrive ...	OMIM:601457
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Patent ductus arteriosus, Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallb...	ORPHA:2255
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Left ventricular outflow tract obstruction, Hypoplastic pulmonary ...	OMIM:613854
Heparin-Induced Thrombocytopenia	Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding, Myocardial infarction, Stroke,...	ORPHA:3325
Ciliary Dyskinesia, Primary, 36, X-Linked	Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di...	OMIM:300991
Pneumocystosis	Respiratory insufficiency, Exertional dyspnea, Weight loss, Chronic oral candidiasis, Interstitia...	ORPHA:723
Partial Atrioventricular Septal Defect	Patent ductus arteriosus, Double outlet right ventricle, Bacterial endocarditis, Exertional dyspn...	ORPHA:1330
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Renal-Hepatic-Pancreatic Dysplasia 1	Patent ductus arteriosus, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Pancreatic cysts, Cirrho...	OMIM:208540
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, In...	ORPHA:3384
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Pulmonary hypoplasia, Stillbirth	OMIM:617468
Ciliary Dyskinesia, Primary, 14	Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal...	OMIM:613807
Hereditary Hemorrhagic Telangiectasia	Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Pulmonary...	ORPHA:774
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Jaundice, Emphysema, Hepatomegaly	ORPHA:60
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Duodenal Atresia	Abnormality of the pancreas, Abnormality of the pulmonary artery, Annular pancreas	ORPHA:1203
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Hypoxemia, Pulmonary hypoplas...	ORPHA:2847
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Respiratory insufficiency, Patent ductus arteriosus, Absent gallbladder, Heart murmur, Interrupte...	ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 51	Respiratory failure, Small for gestational age, Aspiration pneumonia, Neonatal respiratory distress	OMIM:619057
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery	ORPHA:895
Ciliary Dyskinesia, Primary, 32	Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Chro...	OMIM:616481
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Ciliary Dyskinesia, Primary, 5	Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,...	OMIM:608647
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Chronic oral candidiasis, Skin rash, Recurrent pneumonia, Failure to th...	OMIM:300400
Atelosteogenesis, Type Ii	Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth	OMIM:256050
Caspase 8 Deficiency	Asthma, Recurrent sinopulmonary infections, Eczema, Failure to thrive, Pneumonia, Splenomegaly	OMIM:607271
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis	OMIM:618449
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Staphylococcal Necrotizing Pneumonia	Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural e...	ORPHA:36238
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventil...	ORPHA:2902
Pancreatic Agenesis-Holoprosencephaly Syndrome	Small for gestational age, Pancreatic aplasia, Hypoxemia, Absent gallbladder	ORPHA:556955
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Pneumonia	OMIM:247800
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly	OMIM:619126
Surfactant Metabolism Dysfunction, Pulmonary, 5	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ...	OMIM:614370
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at...	ORPHA:99104
Immunodeficiency 11B With Atopic Dermatitis	Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Pneumonia, Atopic dermatitis	OMIM:617638
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Respiratory insufficiency, Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs, Abnormal lu...	ORPHA:1120
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Immunodeficiency, Common Variable, 1	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:607594
Follicular Lymphoma	Pleural effusion, Splenomegaly, Abnormality of the peritoneum, Weight loss	ORPHA:545
Matthew-Wood Syndrome	Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmonary hypoplasia, Failure to ...	ORPHA:2470
Zttk Syndrome	Absent gallbladder, Patent ductus arteriosus, Unilateral lung agenesis, Aortic regurgitation, Fai...	OMIM:617140
Achondrogenesis Type 2	Cardiorespiratory arrest, Pulmonary hypoplasia	ORPHA:93296
Meacham Syndrome	Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Congenital alveola...	OMIM:608978
Laryngotracheal Angioma	Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing	ORPHA:137935
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr...	OMIM:610978
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Patent ductus arteriosus, Double outlet right ventricle, Pulmonary hypoplasia, Mesenteric cyst, T...	OMIM:618316
Neonatal Alloimmune Neutropenia	Jaundice, Pneumonia	ORPHA:464370
Pulmonary Alveolar Proteinosis, Acquired	Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, Lung absces...	OMIM:610910
Bronchial Neuroendocrine Tumor	Hypotension, Abnormal pulmonary interstitial morphology, Hepatic failure, Facial telangiectasia, ...	ORPHA:97287
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Tracheal Agenesis	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs	ORPHA:3346
Trisomy 8P	Heart murmur, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Abnormal lung lobation, Re...	ORPHA:264450
Succinic Acidemia	Respiratory distress	OMIM:600335
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Ciliary Dyskinesia, Primary, 16	Pulmonary insufficiency, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary mo...	OMIM:614017
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology	ORPHA:1548
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Cirrhosis, Emphysema, Cerebral berry aneurysm, Portal hypertension	OMIM:210050
Primary Sclerosing Cholangitis	Spider hemangioma, Hepatocellular carcinoma, Elevated hepatic transaminase, Cholangiocarcinoma, H...	ORPHA:171
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a...	OMIM:254210
Ciliary Dyskinesia, Primary, 19	Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ...	OMIM:614935
Polyarteritis Nodosa	Weight loss, Pleuritis, Raynaud phenomenon, Hypertension, Pericarditis, Abnormal lung morphology,...	ORPHA:767
Heterotaxy, Visceral, 4, Autosomal	Midline liver, Transposition of the great arteries, Bilateral superior vena cava, Polysplenia, Ec...	OMIM:613751
Atrial Septal Defect 8	Anomalous pulmonary venous return	OMIM:614433
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia, Hypotension	OMIM:267430
Ciliary Dyskinesia, Primary, 15	Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni...	OMIM:613808
Nephronophthisis 2	Respiratory insufficiency, Pulmonary insufficiency, Pulmonary hypoplasia, Hypertension, Chronic t...	OMIM:602088
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Pulmonary arterial hypertension, Absent gallbladder, Biliar...	ORPHA:3310
Microphthalmia, Syndromic 9	Respiratory insufficiency, Patent ductus arteriosus, Agenesis of pulmonary vessels, Bilateral lun...	OMIM:601186
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted...	ORPHA:90117
Dextrocardia	Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormal EKG, T-wave inversion, Abnor...	ORPHA:1666
Ciliary Dyskinesia, Primary, 30	Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp...	OMIM:616037
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Respirato...	ORPHA:45452
Immunodeficiency 56	Hepatic failure, Cirrhosis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi...	OMIM:615207
Ciliary Dyskinesia, Primary, 12	Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C...	OMIM:612650
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis...	OMIM:604571
Yellow Nail Syndrome	Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Biliary tract neoplasm, Hyp...	ORPHA:662
Pfapa Syndrome	Weight loss, Arthritis, Recurrent pharyngitis, Hepatomegaly, Infectious encephalitis, Splenomegaly	ORPHA:42642
Ciliary Dyskinesia, Primary, 22	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici...	OMIM:615444
Aspergillosis	Osteomyelitis, Infectious encephalitis, Bronchiectasis, Asthma, Pleuritis, Hepatitis, Chronic pul...	ORPHA:1163
Kaposi Sarcoma	Abnormality of the liver, Weight loss, Skin rash, Venous insufficiency, Abnormal lung morphology,...	ORPHA:33276
Thanatophoric Dysplasia	Respiratory insufficiency, Pulmonary hypoplasia, Patent ductus arteriosus	ORPHA:2655
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Hypoxemia, Hypertensi...	ORPHA:79126
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Interrupted aortic arch, Absent gallbladder, Cryptorchidism	OMIM:300712
Felty Syndrome	Splenomegaly, Rhinitis, Weight loss, Pleuritis, Arthritis, Synovitis, Recurrent pharyngitis, Peri...	ORPHA:47612
Ciliary Dyskinesia, Primary, 34	Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu...	OMIM:617091
Ciliary Dyskinesia, Primary, 35	Decreased nasal nitric oxide, Abdominal situs ambiguus, Bronchiectasis, Productive cough, Chronic...	OMIM:617092
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Aortic atherosclerotic lesion, Accelerated atherosclerosis, Hepatitis, Cholesterol gallstones, He...	ORPHA:209902
Carcinoma Of Esophagus	Obesity, Cough, Weight loss	ORPHA:70482
Immunodeficiency 27A	Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Increased inflammatory response, S...	OMIM:209950
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Common Variable Immunodeficiency	Splenomegaly, Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Recurre...	ORPHA:1572
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic root aneurysm, Aortic atherosclerotic lesion, Hypertension, Intracranial hemorrhage, Conge...	ORPHA:363618
Anaplastic Thyroid Carcinoma	Weight loss, Nodular goiter, Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stri...	ORPHA:142
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a...	OMIM:605809
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Dysplastic Cortical Hyperostosis	Aplasia/Hypoplasia of the lungs, Splenomegaly, Hepatomegaly	ORPHA:2204
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Pulmonary hypoplasia, Stillbirth	OMIM:236500
Cystic Echinococcosis	Abnormal subpleural morphology, Peritoneal abscess, Abnormality of the pancreas, Abnormality of t...	ORPHA:400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic fibrosis, Hepatic cysts, Periportal fibrosis, Hypertension, Pulmonary h...	OMIM:263200
Extracranial Carotid Artery Aneurysm	Cerebral ischemia, Atherosclerosis, Vasculitis, Arterial fibromuscular dysplasia, Hypertension, T...	ORPHA:494424
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res...	OMIM:614679
Isolated Agammaglobulinemia	Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthritis, Fail...	ORPHA:229717
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Eczema, Cholelithiasis	ORPHA:79278
Birt-Hogg-Dubé Syndrome	Pulmonary sequestration, Pneumothorax, Parathyroid adenoma, Emphysema	ORPHA:122
Nipah Virus Disease	Hypotension, Recurrent pharyngitis, Respiratory distress, Cough	ORPHA:99825
Bronchogenic Cyst	Abnormal pleura morphology, Pulmonary cyst, Abnormality of the peritoneum, Dyspnea, Cough, Bronch...	ORPHA:2357
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit...	OMIM:244400
Polymyositis	Respiratory insufficiency, Abnormal atrioventricular conduction, Abnormal pulmonary interstitial ...	ORPHA:732
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory insufficiency, Respiratory distress	ORPHA:238329
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:613193
Caroli Disease	Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,...	ORPHA:53035
Adult Acute Respiratory Distress Syndrome	Hypotension, Pulmonary edema, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respiratory fa...	ORPHA:70578
Grfoma	Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P...	ORPHA:97261
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Small for gestat...	OMIM:618500
Alg3-Cdg	Coarctation of the descending aortic arch, Decreased liver function, Pulmonary hypoplasia, Cardio...	ORPHA:79321
Beta-Thalassemia	Respiratory insufficiency, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, ...	ORPHA:848
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Cryptorchidism	OMIM:224410
Laryngomalacia	Congenital laryngeal stridor, Respiratory distress	OMIM:150280
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Immunodeficiency 32B	Recurrent respiratory infections, Bronchiectasis, Failure to thrive, Sinusitis, Hepatomegaly, Pne...	OMIM:226990
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Scedosporiosis	Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r...	ORPHA:449280
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Splenomegaly, Pulmonary hypoplasia, He...	OMIM:608149
Congenital Alpha2-Antiplasmin Deficiency	Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin...	ORPHA:79
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot	ORPHA:2184
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Conotruncal defect, Abnormal aortic arch morphology, Abnormality of the...	ORPHA:2306
Diabetic Embryopathy	Abnormal aortic morphology, Abnormality of the pancreas, Abnormality of the pulmonary artery, Cry...	ORPHA:1926
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Absent nipple, Bilateral lung agenesis	OMIM:618021
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Periportal fibrosis	OMIM:263210
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Right aortic arch with mirror image branching	OMIM:606217
Immunodeficiency 52	Bronchiectasis, Recurrent pneumonia, Failure to thrive, Chronic lung disease, Splenomegaly	OMIM:617514
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure, Dyspnea, Respiratory distress	ORPHA:1832
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Patent ductus arteriosus after birth at term, Ischemic stroke, Transient isch...	ORPHA:500150
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, Recurrent respiratory infections, Asthma,...	ORPHA:217390
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Pulmonary hypoplasia, Respiratory distress, Hepatic steatosis, Hepatomegaly, Neonatal d...	OMIM:231680
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ...	OMIM:187300
X-Linked Centronuclear Myopathy	Respiratory failure requiring assisted ventilation, Pneumonia, Recurrent respiratory infections, ...	ORPHA:596
Alpha-2-Plasmin Inhibitor Deficiency	Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma	OMIM:262850
Hyperbiliverdinemia	Decreased liver function, Cholestasis, Cholelithiasis	OMIM:614156
Ciliary Dyskinesia, Primary, 43	Bronchiectasis, Productive cough, Chronic sinusitis, Abdominal situs inversus, Chronic rhinitis, ...	OMIM:618699
Perching Syndrome	Respiratory distress	OMIM:617055
Ciliary Dyskinesia, Primary, 2	Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections...	OMIM:606763
Yao Syndrome	Weight loss, Inflammatory abnormality of the skin, Asthma, Pleuritis, Skin rash, Arthritis, Kerat...	OMIM:617321
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Hypertrophic cardiomyopathy, Persistent ...	OMIM:618775
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis	ORPHA:2375
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, Is...	ORPHA:2038
Diffuse Alveolar Hemorrhage	Weight loss, Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Cough, Pulmo...	ORPHA:90060
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Pulmonary hypoplasia	OMIM:241800
Nephroblastoma	Neoplasm of the liver, Hypertension, Weight loss, Neoplasm of the lung	ORPHA:654
Wild Type Attr Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Abnormal pulmonary interstitial morphology,...	ORPHA:330001
X-Linked Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Weight loss, Hepatitis, Skin rash, Arthritis, Recurrent pneumonia,...	ORPHA:47
Ciliary Dyskinesia, Primary, 18	Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Abdominal situs ambiguus, Respiratory...	OMIM:614874
Tonne-Kalscheuer Syndrome	Decreased testicular size, Pulmonary hypoplasia, Cryptorchidism	OMIM:300978
Distal Trisomy 5Q	Eczema, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96097
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Timothy Syndrome	Bronchitis, Patent ductus arteriosus, Prolonged QT interval, Tetralogy of Fallot, Pneumonia, Brad...	OMIM:601005
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased body weight, Decreased testicular size, Failure to thrive, Recurrent upper respiratory ...	OMIM:300534
Melioidosis	Septic arthritis, Respiratory tract infection, Prostatitis, Abnormal parotid gland morphology, He...	ORPHA:31202
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi...	OMIM:615139
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re...	ORPHA:254875
Myotonic Dystrophy 1	Respiratory distress, Testicular atrophy, Atrial flutter, First degree atrioventricular block, Ch...	OMIM:160900
Protoporphyria, Erythropoietic, 1	Hepatic failure, Eczema, Cholelithiasis	OMIM:177000
Takayasu Arteritis	Pulmonary arterial hypertension, Ascending tubular aorta aneurysm, Vascular dilatation, Cerebral ...	ORPHA:3287
Tetrasomy 5P	Pulmonary arterial hypertension, Heart murmur, Pulmonary hypoplasia, Congestive heart failure, Re...	ORPHA:3309
Fetal Akinesia Deformation Sequence	Respiratory insufficiency, Pulmonary hypoplasia, Cryptorchidism	ORPHA:994
Afibrinogenemia, Congenital	Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui...	OMIM:202400
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Abnormal breath sound, Crackles, Restrictive ventilatory defect, Dysp...	ORPHA:210136
Martinez-Frias Syndrome	Pancreatic hypoplasia, Annular pancreas, Hypoplasia of the gallbladder, Extrahepatic biliary duct...	OMIM:601346
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Stroke-like episode, Giant cell hepatitis, Cholestatic liver disea...	ORPHA:79095
Ciliary Dyskinesia, Primary, 38	Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic...	OMIM:618063
Chitayat Syndrome	Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res...	OMIM:617180
Telangiectasia, Hereditary Hemorrhagic, Type 4	Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent...	OMIM:610655
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection	OMIM:620011
Reticular Dysgenesis	Weight loss, Skin rash, Failure to thrive, Recurrent respiratory infections, Chronic otitis media	ORPHA:33355
T-Cell Immunodeficiency With Thymic Aplasia	Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Emphysema, Hepatosplenomegaly, R...	OMIM:242700
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Patent ductus arteriosus, Peritonitis, P...	OMIM:619351
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Respiratory failure, Weight loss, Intracranial hemorrhage, Bruising susceptibility,...	ORPHA:3226
Systemic Capillary Leak Syndrome	Hypotension, Pulmonary edema, Weight loss, Pleural effusion, Pericarditis, Cardiorespiratory arre...	ORPHA:188
Panbronchiolitis, Diffuse	Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Foam cells, Wheezing	OMIM:604809
Autoimmune Pulmonary Alveolar Proteinosis	Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia, Foam cells, Crackles, Restrictiv...	ORPHA:747
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Bone Dysplasia, Lethal Holmgren Type	Respiratory insufficiency, Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy, Fa...	ORPHA:1842
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism, Peripheral arterial stenosis	OMIM:134400
Meacham Syndrome	Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Aplasia/Hypoplasia of the ...	ORPHA:3097
Gaucher Disease, Perinatal Lethal	Hepatic failure, Decreased body weight, Petechiae, Purpura, Pulmonary hypoplasia, Respiratory dis...	OMIM:608013
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph...	ORPHA:217563
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia, Respiratory distress	OMIM:617895
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent ductus arteriosus, Pulmonary hypoplasia, Congestive heart failure, Neonatal respiratory di...	OMIM:616866
Primary Effusion Lymphoma	Pleural effusion, Dyspnea	ORPHA:48686
Serkal Syndrome	Pulmonary hypoplasia, Pulmonic stenosis	ORPHA:139466
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary arterial hypertension, Aortic root aneurysm, Aortopulmonary window, Pulmonary hypoplasi...	OMIM:620025
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Pulmonary hypoplasia, Bilateral lung agenesis, Adrenal gland agenesis	OMIM:611812
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Abnormal biliary tract morphology, Stomatitis, Cholelithiasis	ORPHA:438274
Avian Influenza	Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Congestive heart failure, Miscar...	ORPHA:454836
Chronic Pneumonitis Of Infancy	Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H...	ORPHA:91359
Long Qt Syndrome 13	Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e...	OMIM:613485
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the pancreas, Abnormal testis morphology, Weight loss, Liver abscess, Elevated hep...	ORPHA:54251
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Splenomegaly	ORPHA:1046
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, H...	ORPHA:231222
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Bronchiolitis, Pneumonia, Periodontitis	OMIM:266265
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis	OMIM:620032
Alpha-Thalassemia	Splenomegaly, Hypersplenism, Jaundice, Cholelithiasis	ORPHA:846
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Respiratory insufficiency, Pancreatic cysts, Hepatic fibrosis, Pulmonary insufficiency, Jaundice,...	OMIM:208500
Tricuspid Atresia	Pulmonary artery atresia, Transposition of the great arteries, Persistent left superior vena cava...	ORPHA:1209
Oculopharyngodistal Myopathy	Weight loss, Restrictive ventilatory defect, Recurrent aspiration pneumonia, Respiratory insuffic...	ORPHA:98897
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Hepatitis, Hepatosplenomegaly, Recurrent pneumonia, Otitis media, Failu...	ORPHA:169160
Odontochondrodysplasia 1	Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress	OMIM:184260
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress	ORPHA:91130
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure	OMIM:614399
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Hepatic failure, Decreased body weight, ...	OMIM:614886
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholecystitis, Cholelithiasis, Pigment gallstones, Splenomegaly	OMIM:613470
Familial Isolated Restrictive Cardiomyopathy	Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left...	ORPHA:75249
Sialuria	Elevated hepatic transaminase, Hepatosplenomegaly, Upper airway obstruction, Prolonged prothrombi...	ORPHA:3166
Q Fever	Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural effusion, Abnormal left ...	ORPHA:781
Tempi Syndrome	Telangiectasia, Hypoxemia, Intracranial hemorrhage, Transudative pleural effusion, Abnormality of...	ORPHA:284227
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Spontaneous pneumot...	ORPHA:731
Agnathia-Otocephaly Complex	Tracheomalacia, Pulmonary hypoplasia, Respiratory distress	OMIM:202650
Congenital Tricuspid Valve Dysplasia	Systolic heart murmur, Small for gestational age, Hypoxemia, Tachypnea, Anomalous pulmonary venou...	ORPHA:555874
8P Inverted Duplication/Deletion Syndrome	Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96092
Granulomatosis With Polyangiitis	Respiratory insufficiency, Retinal hemorrhage, Conjunctivitis, Elevated bronchoalveolar lavage fl...	OMIM:608710
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia, Abnormal lung lobation, Tetralogy of Fallot, Tot...	OMIM:208530
Congenital Total Pulmonary Venous Return Anomaly	Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ...	ORPHA:99125
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Weight loss, Hepatitis, Cardiac arrest, Interstitial pneumonitis, S...	ORPHA:139402
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis	OMIM:615513
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Abnormal bleeding, Elevated hepatic transaminase, Biliary tract abnormality,...	ORPHA:79301
Hodgkin Lymphoma	Weight loss, Dyspnea, Cough, Hepatomegaly, Splenomegaly	ORPHA:98293
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block, Exertional dyspnea, Pulmonary fibrosis, Bronchiolitis, Atelectasis	ORPHA:254361
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis	OMIM:605479
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Pulmonary artery dilatation, Pleural effusion, Pulmonary artery stenosis, Misalignment ...	OMIM:265380
Diamond-Blackfan Anemia 20	Total anomalous pulmonary venous return	OMIM:618313
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia, Hypertension	OMIM:191830
Glycogen Storage Disease Vii	Gout, Jaundice, Cholelithiasis	OMIM:232800
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Jaundice, Congestive heart failure, Respiratory distress, Failure to t...	OMIM:615512
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia	OMIM:187600
Jeune Syndrome	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormality of the liver	ORPHA:474
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Persistent left superior vena cava, Neonatal death, Transposition of the great arteries, Pulmonar...	OMIM:314390
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
X-Linked Mandibulofacial Dysostosis	Abnormality of the pulmonary artery, Pulmonic stenosis, Cryptorchidism	ORPHA:1131
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pleural effusion, Hypertrophic cardiomyopathy, Small for gestational age, Pulmonary hypoplasia	OMIM:616897
Trisomy 10P	Small for gestational age, Absent gallbladder	ORPHA:171929
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Testicular microlithiasis, Pneumothorax, Bronchiectasis, Oxygen desatu...	ORPHA:60025
Immunodeficiency 40	Respiratory tract infection, Elevated circulating alanine aminotransferase concentration, Chronic...	OMIM:616433
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Pulmonary hypopl...	ORPHA:96179
Desmoplastic Small Round Cell Tumor	Neoplasm of the lung, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the periton...	ORPHA:83469
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Bronchiti...	ORPHA:183675
Immunodeficiency, Common Variable, 2	Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media...	OMIM:240500
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Aortic arch aneurysm, Common carotid a...	OMIM:613834
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis, Rhinorrhea, Right aortic arch, Wheezing, Goiter	OMIM:617577
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Exertional dyspnea, Weight loss	ORPHA:100083
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Cryptorchidism	ORPHA:250999
Immunodeficiency 13	Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper...	OMIM:615518
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis, Fluctuating...	OMIM:619220
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Respiratory distress, Atelectasis, Death in infancy	OMIM:300219
Tularemia	Conjunctivitis, Erythema nodosum, Skin rash, Inflammatory abnormality of the eye, Respiratory dis...	ORPHA:3392
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary obstruction, Recurrent...	OMIM:616576
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss, Nodular goiter, Pheochromocytoma, Primary hype...	ORPHA:1332
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Facial telangiectasia, Weight loss, Heart murmur, Neoplasm of the liver, E...	ORPHA:100085
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Right bundle branch block, Pulmonary edema, Reduced left ventricular ejecti...	OMIM:115197
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Bronchiectasis, Skin rash, Failure to thrive, Inflammation of the large intesti...	OMIM:618108
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren...	OMIM:600376
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau...	ORPHA:567983
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bacterial endocardit...	ORPHA:2072
Choanal Atresia	Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction, Abnormal nasal...	ORPHA:137914
Oligomeganephronia	Small for gestational age, Pulmonary hypoplasia, Hypertension, Pulmonary venous occlusion	ORPHA:2260
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Decreased DLCO, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Crackles, Dysp...	OMIM:614742
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Diaphanospondylodysostosis	Respiratory insufficiency, Abnormal liver lobulation, Pulmonary hypoplasia, Respiratory distress,...	OMIM:608022
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Endocarditis, Abnormal pleura m...	ORPHA:183
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:79238
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly	OMIM:618982
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Bronchiectasis, Hepatitis, Skin rash, Arthritis, Failure to thrive...	ORPHA:33110
Mirizzi Syndrome	Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Tachycardia, Cholelithiasis, Abn...	ORPHA:521219
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Recu...	OMIM:618495
Holt-Oram Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return, Atrioven...	ORPHA:392
Amoebiasis Due To Entamoeba Histolytica	Pleural empyema, Weight loss, Liver abscess, Elevated hepatic transaminase, Congestive heart fail...	ORPHA:67
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Failure to thrive, Restri...	OMIM:300770
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Hepatosplenomegaly, Recurrent aspiration pneumonia, Respiratory insufficienc...	ORPHA:2590
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Telangiectasia, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Cerebra...	OMIM:175050
Chops Syndrome	Patent ductus arteriosus, Aspiration pneumonia, Anomalous pulmonary venous return, Sleep apnea, C...	OMIM:616368
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart...	ORPHA:1329
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Polycythemia Vera	Respiratory insufficiency, Pulmonary embolism, Weight loss, Intermittent claudication, Angina pec...	ORPHA:729
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Rec...	OMIM:211530
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy	ORPHA:26792
Malaria	Respiratory distress	ORPHA:673
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress	ORPHA:2759
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Pulmonary hypoplasia, Pancreatic fibrosis, Hepatomegaly, Extrapulm...	OMIM:200995
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,...	ORPHA:254864
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Total anomalous pulmonary venous return, Abdominal situs inversus,...	OMIM:614779
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis	OMIM:614069
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent resp...	OMIM:300853
Laryngotracheoesophageal Cleft	Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respiratory infections	ORPHA:2004
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:235700
Congenital Disorder Of Glycosylation, Type Iu	Neonatal respiratory distress, Respiratory distress, Death in infancy	OMIM:615042
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs, Cryptorchidism	ORPHA:1027
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatic failure, Decreased...	ORPHA:77293
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Distal Tetrasomy 15Q	Patent ductus arteriosus, Large for gestational age, Pulmonary hypoplasia, Hydrocele testis, Hypo...	ORPHA:314588
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Chronic bronchitis, Bronchiectasis, Failure to thrive, Sinusitis, Pneumonia	OMIM:242860
Atrial Septal Defect, Ostium Secundum Type	Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnormal left ventri...	ORPHA:99103
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Pulmonary hypoplasia, Respiratory distress, Stillbirth	OMIM:151210
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Episodic tachypnea, Small for gestational age, Inflammatory abnormality of the skin, Jaundice, El...	ORPHA:26793
Lymphatic Malformation 12	Recurrent upper and lower respiratory tract infections, Death in adolescence, Pleural thickening,...	OMIM:620014
Cutis Laxa, Autosomal Recessive, Type Ic	Vascular dilatation, Hypoplasia of the thymus, Pulmonary hypoplasia, Emphysema, Recurrent pneumon...	OMIM:613177
Meckel Syndrome 14	Hepatic fibrosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest, Mitral regurgitat...	OMIM:619879
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism, Purpura	OMIM:612336
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Recurrent respiratory infections	ORPHA:1389
Fusariosis	Maculopapular exanthema, Osteomyelitis, Abnormality of the liver, Bronchiectasis, Productive coug...	ORPHA:228119
Immunodeficiency, Common Variable, 8, With Autoimmunity	Conjunctivitis, Atrophic gastritis, Recurrent respiratory infections, Bronchiectasis, Erythema no...	OMIM:614700
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Pulmonary hypoplasia, Intrahepatic biliary dysgenesis, Failure to thriv...	OMIM:214100
Mercury Poisoning	Hypotension, Interstitial pneumonitis, Respiratory distress, Hypertension, Dyspnea, Respiratory f...	ORPHA:330021
Alveolar Echinococcosis	Pancreatic cysts, Biliary cirrhosis, Hepatic cysts, Weight loss, Liver abscess, Abnormal spleen m...	ORPHA:284
Ppoma	Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, P...	ORPHA:97278
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Anomalous pulmonary venous ret...	OMIM:619657
Sickle Cell Disease	Jaundice, Splenic infarction, Hypoxemia, Hypertension, Hepatomegaly, Cholelithiasis, Stroke, Sple...	OMIM:603903
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia	OMIM:312150
Diarrhea 12, With Microvillus Atrophy	Respiratory tract infection, Bronchiectasis	OMIM:619445
Al Amyloidosis	Abnormal pulmonary interstitial morphology, Abnormality of the liver, Reduced left ventricular ej...	ORPHA:85443
Supravalvular Aortic Stenosis	Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ...	OMIM:185500
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Heart murmur, Pulmonic stenosis, Coarctation o...	ORPHA:3426
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Cholecystitis, Hepatomegaly, Cholelithiasis, Splenomegaly	OMIM:266200
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Acute Promyelocytic Leukemia	Exertional dyspnea, Productive cough, Petechiae, Weight loss, Purpura, Abnormal bleeding, Bruisin...	ORPHA:520
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Left superior vena cava draining to coronar...	ORPHA:464738
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Stomatit...	ORPHA:911
Hardikar Syndrome	Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Pulmonary artery stenosis...	OMIM:301068
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Neuronopathy, Distal Hereditary Motor, Type X	Bronchiectasis, Descending aortic dissection, Bruising susceptibility, Ascending aortic dissectio...	OMIM:620080
Hughes-Stovin Syndrome	Pulmonary arterial hypertension, Pulmonary embolism, Pulmonary artery aneurysm, Cardiorespiratory...	ORPHA:228116
Pagod Syndrome	Sudden cardiac death, Abnormal aortic morphology, Abnormal testis morphology, Abnormality of the ...	ORPHA:991
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory tract infection, Left ventricular outflow tract obstructio...	ORPHA:308552
Undifferentiated Pleomorphic Sarcoma	Abnormality of the peritoneum, Weight loss	ORPHA:2023
Cardiomyopathy, Familial Hypertrophic, 16	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype...	OMIM:613838
Riddle Syndrome	Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Weight loss, Arthritis, N...	ORPHA:420741
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Gastrointestinal hemorrhage, Hepatomegaly	ORPHA:2198
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema	OMIM:618307
Ciliary Dyskinesia, Primary, 6	Recurrent sinusitis, Abnormal ciliary motility, Sinusitis, Recurrent respiratory infections, Cili...	OMIM:610852
Auriculocondylar Syndrome 2	Apnea, Snoring, Respiratory distress	OMIM:614669
Sickle Cell Anemia	Osteomyelitis, Hypoxemia, Abnormality of the spleen, Cholestasis, Pigment gallstones	ORPHA:232
Immunodeficiency 92	Osteomyelitis, Sclerosing cholangitis, Cholangitis, Hepatomegaly, Esophagitis, Pneumonia	OMIM:619652
Ventricular Septal Defect 3	Patent ductus arteriosus, Pulmonary artery stenosis	OMIM:614432
Microsporidiosis	Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Pneumonia, Bronchitis, Lymphadenitis,...	ORPHA:2552
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Biliary hyperplasia, Pulmonary hypoplasia, Respiratory distress, Eczema, F...	ORPHA:83617
Atrial Septal Defect, Ostium Primum Type	Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Abnormal P ...	ORPHA:99106
Short-Rib Thoracic Dysplasia 12	Respiratory insufficiency, Patent ductus arteriosus, Periportal fibrosis, Pulmonary hypoplasia, H...	OMIM:269860

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us