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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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
Absent gallbladder, Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary arterial hypertensio... ORPHA:210122
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Hypoplastic aortic arch, Interrupted aortic arch, Pulmonary insufficiency... OMIM:265380

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Blastoma
Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Dyspnea, Pulmonary arterial hypertension, Pulmonary v... OMIM:234810
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Idiopathic Achalasia
Cough, Recurrent aspiration pneumonia, Weight loss, Wheezing, Bronchitis ORPHA:930
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Failure to thrive, Eczematoid dermatitis OMIM:269840
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Pneumonia, Recurrent skin infectio... OMIM:613953
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Pulmonary hypoplasia, Abnormal li... ORPHA:3032
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Cystic liver disease, Pulmonary hypoplasia, Hepatic ... OMIM:612284
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Hepatomegaly, Pleural effusio... ORPHA:50251
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia, Truncus arteriosus OMIM:274210
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Immunodeficiency 104
Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media, Failure to thrive secondary to recur... OMIM:608971
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Neo... OMIM:265120
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea, Respirat... OMIM:263000
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Elevated hepatic transaminase, Cirrho... OMIM:613490
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary insufficiency, Neonatal death, Respiratory insufficiency, Pulmonary hyp... OMIM:245650
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death, P... OMIM:619003
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficie... ORPHA:1164
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Cryptorchidism, Type I truncus arteriosus, Failure to t... OMIM:156810
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Anomalous origin of left pulmonary artery from ascending aorta, Patent ductu... ORPHA:99050
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestive heart failure, Peripheral arter... ORPHA:90308
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:615451
Pentalogy Of Cantrell
Tetralogy of Fallot, Polysplenia, Absent gallbladder, Pulmonary hypoplasia ORPHA:1335
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Left supe... OMIM:613759
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic stenosis, Asplenia, Truncus arte... OMIM:615415
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Arrhythmia, Failure to thrive in infancy, Cough, Recurrent upp... ORPHA:171876
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Scimitar Syndrome
Pulmonary artery hypoplasia, Left-to-right shunt, Double outlet right ventricle, Anomalous origin... ORPHA:185
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphol... ORPHA:199241
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Abnormal aortic morphol... ORPHA:1166
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Recurrent otitis media, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormality of blood circulation, Tachypnea, Hypoplastic aortic arch, Interrupted aort... ORPHA:860
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Decreased DLCO, ... OMIM:616414
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Respiratory distress, Hypertension, Pulmonary hypoplasia OMIM:616733
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Gaucher Disease Type 2
Cardiac arrest, Abnormal pattern of respiration, Cough, Recurrent respiratory infections, Respira... ORPHA:77260
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Primary Ciliary Dyskinesia
Recurrent otitis media, Double outlet right ventricle, Productive cough, Recurrent sinopulmonary ... ORPHA:244
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary arterial hypertensio... ORPHA:210122
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Neonatal death, Pulmonary hypoplasia OMIM:224410
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Primary Pulmonary Hypoplasia
Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Neonatal respiratory di... ORPHA:2257
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
Microphthalmia, Syndromic 12
Cryptorchidism, Pulmonary hypoplasia OMIM:615524
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
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Pulmonary insufficiency, Crackles, Cough, Br... ORPHA:2032
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Opitz gbbb syndrome, type II
Absent gallbladder, Patent ductus arteriosus, Aspiration, Cryptorchidism, Coarctation of aorta, P... OMIM:145410
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis OMIM:614069
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Recurrent bronchitis OMIM:312863
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Double outlet right ventricle, Bronc... OMIM:618254
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Neonatal death, Respirat... OMIM:601612
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Failure to thrive, Otitis media, Failure to thrive ... OMIM:601457
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Atrial fibrillation... ORPHA:99105
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616867
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Cardiac arrest, Tachypnea, Respiratory failure, Respiratory tract infection... ORPHA:70587
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Acute Lung Injury
Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory failure, Dyspnea, Respi... ORPHA:178320
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Tetralogy of Fallot, Patent ductus arteriosus, Pancreatic hypoplasia, Pulmoni... OMIM:600001
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Congenital Rubella Syndrome
Patent ductus arteriosus, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of the pulmonary arte... ORPHA:290
Lymphoid Interstitial Pneumonia
Hypoxemia, Crackles, Rheumatoid arthritis, Pulmonary venous hypertension, Wheezing, Skin rash, Re... ORPHA:79128
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Recurrent otitis media, Reduced FEV1/FVC ratio, Restrictive ventilatory defe... OMIM:611884
Slc35A1-Cdg
Pneumonia, Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Abnormal bleeding, Prolonged bl... ORPHA:238459
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Microlissencephaly
Pneumonia ORPHA:1083
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Absent gallbladder, Tetralogy of Fallot, Pulmonary hypoplasia OMIM:617925
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
Rigid Spine Syndrome
Respiratory insufficiency, Cardiac conduction abnormality, Pneumonia, Abnormality on pulmonary fu... ORPHA:97244
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Epistaxis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatom... OMIM:211600
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound, Crackles,... ORPHA:1302
Absence Of The Pulmonary Artery
Atrial fibrillation, Pulmonary edema, Recurrent pneumonia, Patent ductus arteriosus, Congestive h... ORPHA:980
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Left ventricular outflow tract obst... OMIM:613854
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent ductus arteriosus, Cryptorchidism, Double outlet right ventricle, Pul... OMIM:618316
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Pleural effusion, Cough, Pulmonic stenosis, Pulmonary arterial hyperten... ORPHA:2414
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Wheezing, Abnormal pulmonary interstitial morphology, Pulmo... ORPHA:2302
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Tetralogy of Fallot, Patent ductus arteriosus, Small for gesta... ORPHA:2255
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Atrial flutter, Patent ductus arteriosus, Bacterial endocarditis, Atrial arr... ORPHA:1330
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia ORPHA:306550
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Patent ductus arterios... OMIM:208540
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Splenomegaly, Hepatomegaly, Bronchiectasi... OMIM:607594
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Pulmonary embolism, Myocardial infarction, Abnormal onset of bleeding ORPHA:3325
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Duodenal Atresia
Annular pancreas, Abnormality of the pulmonary artery, Abnormality of the pancreas ORPHA:1203
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Portal hypertension, Cirrhosis, Cerebral berry aneurysm OMIM:210050
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Hypoxemia, Patent ductus arteriosus, Palpitations, Mitral stenosis, Pulmonar... ORPHA:2847
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasis, Ciliary dyskinesia, R... OMIM:613807
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure, Small for gestational age OMIM:619057
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:608647
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Cryptorchidism, Heart murmur, Respiratory insuffici... ORPHA:163979
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure... ORPHA:36238
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia OMIM:256050
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, ... OMIM:615482
Perching Syndrome
Respiratory distress OMIM:617055
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sin... OMIM:604571
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, P... ORPHA:171
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Immunodeficiency 75
Recurrent respiratory infections, Hepatosplenomegaly, Bronchiectasis OMIM:619126
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Pneumonia, Hepatomegaly, Failure to thrive, Hypoplasia of the thymus, Chroni... OMIM:300400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Testicular atrophy OMIM:601163
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Hereditary Hemorrhagic Telangiectasia
Hepatic failure, Gastrointestinal hemorrhage, Abnormal cardiovascular system physiology, Telangie... ORPHA:774
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Coarctation of aorta, Abnormal lung lo... ORPHA:1120
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia ORPHA:93296
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary hypoplasia OMIM:255320
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Caspase 8 Deficiency
Pneumonia, Asthma, Splenomegaly, Eczema, Failure to thrive, Recurrent sinopulmonary infections OMIM:607271
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Failure to thrive, Annular pancreas, Abnormal lung mo... ORPHA:2470
Follicular Lymphoma
Weight loss, Splenomegaly, Pleural effusion, Abnormality of the peritoneum ORPHA:545
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenomegaly, Hepatomegaly, Hypertens... OMIM:263200
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal thickening, Exertional dysp... OMIM:614370
Bronchial Neuroendocrine Tumor
Nonproductive cough, Hepatic failure, Pneumonia, Asthma, Cardiogenic shock, Hypotension, Elevated... ORPHA:97287
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Zttk Syndrome
Absent gallbladder, Aortic regurgitation, Patent ductus arteriosus, Failure to thrive, Unilateral... OMIM:617140
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis med... OMIM:614017
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Birt-Hogg-Dubé Syndrome
Emphysema, Parathyroid adenoma, Pneumothorax, Pulmonary sequestration ORPHA:122
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Failure to thrive, Eczematoid... OMIM:242700
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second he... ORPHA:99104
Immunodeficiency 56
Recurrent pneumonia, Hepatic failure, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurr... OMIM:615207
Succinic Acidemia
Respiratory distress OMIM:600335
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormal testis morphology, Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Pulmonary hypoplasia OMIM:241800
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Hypoplastic spleen, Tetralogy of Fallot, Patent ductus arteriosus,... OMIM:601186
Meacham Syndrome
Tetralogy of Fallot, Stillbirth, Accessory spleen, Patent ductus arteriosus, Scimitar anomaly, Pa... OMIM:608978
Trisomy 8P
Tetralogy of Fallot, Recurrent upper respiratory tract infections, Cryptorchidism, Peripheral pul... ORPHA:264450
Renal Tubular Dysgenesis
Respiratory insufficiency, Hypotension, Pulmonary hypoplasia OMIM:267430
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Hypo... OMIM:610978
Polyarteritis Nodosa
Cardiomyopathy, Hypertension, Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Pleurit... ORPHA:767
Atrial Septal Defect 8
Anomalous pulmonary venous return OMIM:614433
Dextrocardia
T-wave inversion, Pancreatic hypoplasia, Abnormal EKG, Congenital malformation of the great arter... ORPHA:1666
Yellow Nail Syndrome
Sinusitis, Hypoplasia of lymphatic vessels, Biliary tract neoplasm, Cough, Bronchiectasis, Dyspne... ORPHA:662
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Coronary artery... ORPHA:363618
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Common Variable Immunodeficiency
Emphysema, Abnormality of the liver, Pneumonia, Restrictive ventilatory defect, Failure to thrive... ORPHA:1572
Thanatophoric Dysplasia
Respiratory insufficiency, Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:2655
Pfapa Syndrome
Weight loss, Infectious encephalitis, Splenomegaly, Hepatomegaly, Recurrent pharyngitis, Arthritis ORPHA:42642
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Tetrasomy 9P
Absent gallbladder, Myositis, Cryptorchidism, Jaundice, Pulmonary arterial hypertension, Biliary ... ORPHA:3310
Immunodeficiency 27A
Hepatosplenomegaly, Pneumonia, Increased inflammatory response, Splenomegaly, Abnormal bronchus p... OMIM:209950
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Kaposi Sarcoma
Abnormality of the liver, Venous insufficiency, Abnormality of the spleen, Abnormal lung morpholo... ORPHA:33276
Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder, Interrupted aortic arch, Patent ductus arteriosus OMIM:300712
Felty Syndrome
Sinusitis, Recurrent pneumonia, Weight loss, Splenomegaly, Hepatomegaly, Episcleritis, Recurrent ... ORPHA:47612
Nephronophthisis 2
Pulmonary insufficiency, Respiratory failure, Chronic tubulointerstitial nephritis, Hypertension,... OMIM:602088
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Recurrent respiratory infections, Fail... ORPHA:229717
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Nipah Virus Disease
Recurrent pharyngitis, Hypotension, Cough, Respiratory distress ORPHA:99825
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia, Hypoxemia, Small for gestational age ORPHA:556955
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormality of the... ORPHA:2306
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Jaundice, Hepatic periportal necrosis, Respiratory distress, Neo... OMIM:231680
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypoxemia, Ast... ORPHA:2902
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Obesity, Accelerated atherosclerosis, Cor... ORPHA:209902
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Neoplasm of the lung, Upper airway obstruction, Stridor, Respiratory distress, Go... ORPHA:142
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Abnormality on pulmonary function testing, As... ORPHA:1163
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Shock, Respiratory failure, Hypotension, Dyspnea, Vasculitis, Pancreatitis,... ORPHA:70578
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Eczema, Decreased liver function ORPHA:79278
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Cystic Echinococcosis
Abnormality of the testis size, Weight loss, Abnormality of the pancreas, Biliary tract obstructi... ORPHA:400
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Polymyositis
Dilated cardiomyopathy, Weight loss, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart fa... ORPHA:732
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Beta-Thalassemia
Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hepatitis, Respiratory i... ORPHA:848
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
Alg3-Cdg
Coarctation of the descending aortic arch, Decreased liver function, Pulmonary hypoplasia, Cardio... ORPHA:79321
Grfoma
Cholelithiasis, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Hepatomegaly, Increased... ORPHA:97261
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Respi... ORPHA:254875
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Kagami-Ogata Syndrome
Patent ductus arteriosus, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pulmonary arterial hyper... OMIM:608149
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Asthma, Recurrent respiratory infections, Recurrent sinusitis, Atopic dermatitis, Chro... ORPHA:217390
Pulmonary Arteriovenous Malformation
Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Ischemic stroke, Cough, Myoca... ORPHA:2038
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Ectopia of the spleen, Dextrotransposition of the great ... OMIM:613751
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Melioidosis
Pneumonia, Lung abscess, Parotitis, Cutaneous abscess, Prostatitis, Respiratory tract infection, ... ORPHA:31202
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Failure to thrive, Otitis media, Aplasia... OMIM:602450
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pancreas, Cryptorchidism, Abnormality of the pulmonary ar... ORPHA:1926
Immunodeficiency 52
Recurrent pneumonia, Splenomegaly, Bronchiectasis, Failure to thrive, Chronic lung disease OMIM:617514
Tonne-Kalscheuer Syndrome
Cryptorchidism, Pulmonary hypoplasia, Decreased testicular size OMIM:300978
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Recurrent upper respiratory tract infections, Decreased body weight, Cryptorchidi... OMIM:300534
Chitayat Syndrome
Recurrent respiratory infections, Respiratory distress, Tracheomalacia, Abnormal pulmonary inters... OMIM:617180
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Yao Syndrome
Weight loss, Asthma, Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericardit... OMIM:617321
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Telangiectasia, Hereditary Hemorrhagic, Type 1
Right-to-left shunt, Hypoxemia, Gastrointestinal hemorrhage, Cerebral arteriovenous malformation,... OMIM:187300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Absent gallbladder, Failure to thrive in infancy, Respiratory failure, Transient ische... ORPHA:500150
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteriosclerosis, Arteritis, Atherosclerosis, Vasculitis... ORPHA:494424
Nephroblastoma
Weight loss, Neoplasm of the lung, Hypertension, Neoplasm of the liver ORPHA:654
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f... OMIM:160900
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Periportal fibrosis, Pulmonary hypoplasia OMIM:263210
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, In... ORPHA:90060
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Distal Trisomy 5Q
Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Weight loss, Arthritis, Osteomyelitis, Failure to thrive, Hepatit... ORPHA:47
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:614874
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent ductus arteriosus, Prolonged QT interval, Bradycardia, Bro... OMIM:601005
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Portal hypertension, Abnormal breath sound, Crackles, Abnormal pl... ORPHA:210136
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Hypertrophic cardiomyopathy, Hyperventilation, Bradyca... OMIM:618775
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczema, Hepatic failure OMIM:177000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Immunodeficiency 62
Bronchiectasis OMIM:618459
Takayasu Arteritis
Weight loss, Arthritis, Inflammatory abnormality of the eye, Increased inflammatory response, Hyp... ORPHA:3287
Panbronchiolitis, Diffuse
Hypoxemia, Foam cells, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hepatomegaly, Recurrent respiratory infect... ORPHA:1842
Primary Effusion Lymphoma
Pleural effusion, Dyspnea ORPHA:48686
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Pyelonephritis, Thoracic aortic aneurysm, Pat... OMIM:619351
Reticular Dysgenesis
Recurrent respiratory infections, Failure to thrive, Chronic otitis media, Weight loss, Skin rash ORPHA:33355
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Decreased body weight, Patent ductus arteriosus, Double outlet r... OMIM:614886
Fetal Akinesia Deformation Sequence
Cryptorchidism, Respiratory insufficiency, Pulmonary hypoplasia ORPHA:994
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Recurrent respiratory infections, Fail... ORPHA:3309
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Hypoxemia, Foam cells, Intraalveolar phospholipid accumulation, C... ORPHA:747
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Systemic Capillary Leak Syndrome
Weight loss, Arrhythmia, Myocarditis, Pleural effusion, Cough, Rhinorrhea, Hypotension, Cardiores... ORPHA:188
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Elevated hepatic transaminase, Liver abscess, Abnormal testis morpho... ORPHA:54251
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure, Splenomegaly, Hepatomegaly, Recurrent respiratory i... ORPHA:3226
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Petechiae, Decreased body weight, Splenomegaly, Hepatomegaly... OMIM:608013
Serkal Syndrome
Pulmonary hypoplasia, Pulmonic stenosis ORPHA:139466
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Congestive heart failure OMIM:301021
Meacham Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Conotruncal defec... ORPHA:3097
Q Fever
Abnormal vascular morphology, Maculopapular exanthema, Hepatitis, Abnormal pulmonary interstitial... ORPHA:781
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Telangiectasia, Abnormality of the pulmonary vasculatur... ORPHA:284227
Tricuspid Atresia
Persistent left superior vena cava, Pulmonary artery atresia, Coarctation of aorta, Transposition... ORPHA:1209
Alpha-Thalassemia
Cholelithiasis, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent pneumonia, Hepatosplenomegaly, Pneumonia, Erythroderma, Hepatitis, Otitis media, Chroni... ORPHA:169160
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive ventilatory defect OMIM:614399
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respiratory distres... ORPHA:91359
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress ORPHA:91130
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infe... ORPHA:60025
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jau... OMIM:208500
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Hypertension, Hypoventilat... ORPHA:731
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronch... OMIM:244400
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Recurrent otitis media, Pneumonia, Bronchiolitis OMIM:266265
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenosis, Adrenal gland agenesis OMIM:611812
Right Atrial Isomerism
Tetralogy of Fallot, Total anomalous pulmonary venous return, Abdominal situs ambiguus, Pulmonic ... OMIM:208530
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplasm... ORPHA:100085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Pigment gallstones OMIM:613470
Gallbladder Disease 4
Cholelithiasis OMIM:611465
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... ORPHA:99125
Granulomatosis With Polyangiitis
Sinusitis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Uveitis, Diffuse alveolar... OMIM:608710
Odontochondrodysplasia 1
Recurrent respiratory infections, Respiratory distress, Pulmonary hypoplasia OMIM:184260
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hypoxemia, Systolic heart murmur, Small for g... ORPHA:555874
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Recurrent skin infections, Bronchiectasis, Eczema, Recurrent respiratory ... OMIM:618282
Immunodeficiency 14A, Autosomal Dominant
Recurrent respiratory infections, Splenomegaly, Recurrent sinopulmonary infections, Bronchiectasis OMIM:615513
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Reduced forced expiratory volume in one second, Intraalveolar pho... OMIM:300770
Jeune Syndrome
Respiratory insufficiency, Abnormality of the liver, Aplasia/Hypoplasia of the lungs ORPHA:474
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins OMIM:618021
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent otitis media, Cholangitis, Rheumatoid arthritis, Epididymitis, Liver a... ORPHA:183675
Drug Reaction With Eosinophilia And Systemic Symptoms
Cardiac arrest, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cough, Tubulointe... ORPHA:139402
Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Cough, Dyspnea, Weight loss ORPHA:98293
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Failure to thrive, Apnea, Recurrent aspiration pneumonia OMIM:230900
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Rhinorrhea, Bronchiectasis, Right aortic arch, Goiter, Wheezing OMIM:617577
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Absent gallbladder, Tetralogy of Fallot ORPHA:3186
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Biliary tra... ORPHA:79301
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, High-output congestive heart failur... ORPHA:231222
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Neoplasm of the lung, Abnormality of the per... ORPHA:83469
Triosephosphate Isomerase Deficiency
Cholelithiasis, Congestive heart failure, Cholecystitis, Respiratory failure, Splenomegaly, Jaund... OMIM:615512
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Hypoplastic aortic arch, Interrupted aortic arch, Pulmonary insufficiency... OMIM:265380
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Bronch... OMIM:615518
Maternal Uniparental Disomy Of Chromosome 2
Bilateral cryptorchidism, Respiratory infections in early life, Neonatal respiratory distress, Pr... ORPHA:96179
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Dyspnea, Orthopnea, Recurrent re... ORPHA:75249
Sialuria
Cholelithiasis, Hepatosplenomegaly, Sleep apnea, Hepatomegaly, Upper airway obstruction, Elevated... ORPHA:3166
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Diaphanospondylodysostosis
Tracheomalacia, Abnormal liver lobulation, Respiratory distress, Respiratory insufficiency, Pulmo... OMIM:608022
Trisomy 10P
Absent gallbladder, Small for gestational age ORPHA:171929
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Hepatomegaly, Bronchiectasis, Recurren... OMIM:240500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Bronchiectasis, Recurrent sinusitis, Chronic pulm... OMIM:616576
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Neoplasm of the lung, Pheochromocytoma, Nodular goiter, Weight loss,... ORPHA:1332
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Recurrent respiratory infections, Failure to... OMIM:618108
Tularemia
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Pleural effu... ORPHA:3392
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypertrophic cardiomyopathy, Pleural effusion, Pulmonary hypoplasia OMIM:616897
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Congestive heart failure, Cardiomyopathy, Neonatal respiratory distress... OMIM:616866
Oligomeganephronia
Small for gestational age, Hypertension, Pulmonary hypoplasia, Pulmonary venous occlusion ORPHA:2260
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Pulmonary hypoplasia ORPHA:250999
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Recurrent otitis media, Fluctuating splenomegaly, B... OMIM:619220
Choanal Atresia
Tracheomalacia, Abnormal nasal mucus secretion, Recurrent respiratory infections, Upper airway ob... ORPHA:137914
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral arteriovenous malformation, Nail bed telangiectasia, Hepatic arteriovenous malformation,... OMIM:600376
Inflammatory Pseudotumor Of The Liver
Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, Elevated ... ORPHA:90003
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Crackles, Usual interstitial pneumonia, Cough, Dyspnea, Obst... OMIM:614742
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Pulmonary hypoplasia ORPHA:3035
Glycogen Storage Disease Vii
Cholelithiasis, Gout, Jaundice OMIM:232800
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Small for gestational ag... ORPHA:567983
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic li... ORPHA:79095
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Herpes simplex encephalitis, Bronchiectasis OMIM:618982
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Lung abscess, Congestive heart failure, Pleural effusion, Cough, Acute... ORPHA:67
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Cough, Bronchiectasis, Recurrent respiratory inf... ORPHA:33110
Eosinophilic Granulomatosis With Polyangiitis
Hypertension, Skin rash, Congestive heart failure, Increased inflammatory response, Abnormal pleu... ORPHA:183
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Ecchymosis, Bacterial endocarditis, Splenomegaly, Varicose ve... ORPHA:2072
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia OMIM:202650
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, First degree atrioventricular block, At... ORPHA:392
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
Omenn Syndrome
Pneumonia, Splenomegaly, Hepatomegaly, Erythroderma, Failure to thrive, Hypoplasia of the thymus OMIM:603554
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pulmonary hypoplasia, Pancreatic fibrosis OMIM:615503
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Pulmonary artery stenosis, Vascular dilatation, Pulmonary hypoplasia OMIM:613177
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress ORPHA:26792
Galactose Epimerase Deficiency
Weight loss, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Congestive heart failure, Tachypnea, Respiratory failu... ORPHA:454836
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Stridor, Respiratory distre... OMIM:211530
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Double outlet right ventricle, Right aortic arch, Abdomi... OMIM:614779
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibrosis, Polysplenia, Hepatic fibrosis, Pulm... OMIM:200995
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Elevated jugular venous pressure... ORPHA:1329
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Abnormal capillary physiology, Upper airway obstruction, Respiratory distress ORPHA:100057
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Laryngotracheoesophageal Cleft
Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respiratory distress ORPHA:2004
Autosomal Recessive Amelia
Cryptorchidism, Aplasia/Hypoplasia of the lungs ORPHA:1027
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Splenomegaly, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, ... OMIM:300853
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Malaria
Respiratory distress ORPHA:673
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Pulmonary hypoplasia OMIM:617022
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Uveitis, Erythema nodosum, Arthritis, Ast... OMIM:614700
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Recurrent respiratory infecti... ORPHA:586
Hypophosphatasia
Emphysema, Respiratory insufficiency, Failure to thrive in infancy ORPHA:436
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Cherry red spot of the macula, Hepatic failure, Respiratory failure requiring ass... ORPHA:77293
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Alveolar Echinococcosis
Biliary cirrhosis, Portal hypertension, Weight loss, Pancreatic cysts, Cholangitis, Cutaneous abs... ORPHA:284
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Bronchiectasis, Failure to thrive OMIM:242860
Cardiac-Urogenital Syndrome
Tetralogy of Fallot, Accessory spleen, Hepatopulmonary fusion, Cryptorchidism, Patent ductus arte... OMIM:618280
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Hypotension, Dyspnea, Hypertension, Respiratory di... ORPHA:330021
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Immunodeficiency 92
Sclerosing cholangitis, Pneumonia, Cholangitis, Hepatomegaly, Osteomyelitis, Esophagitis OMIM:619652
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Stuve-Wiedemann Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy... OMIM:601559
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Supravalvular aortic stenosis, Pulmonary artery stenosis, Pulmonic ... OMIM:185500
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Abnormality of the liver, Pneumonia, Myositis, Lung absc... ORPHA:228119
Pagod Syndrome
Abnormal aortic morphology, Pulmonary artery hypoplasia, Arrhythmia, Sudden cardiac death, Abnorm... ORPHA:991
Double Outlet Right Ventricle
Tetralogy of Fallot, Tachypnea, Double outlet right ventricle, Coarctation of aorta, Pulmonic ste... ORPHA:3426
Ppoma
Cholelithiasis, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Hepatomegaly, Increased... ORPHA:97278
Hughes-Stovin Syndrome
Pulmonary embolism, Pulmonary artery aneurysm, Cough, Dyspnea, Pulmonary arterial hypertension, C... ORPHA:228116
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Ventricular tachycardia, Arrhythmia,... ORPHA:26793
Nocardiosis
Scleritis, Productive cough, Liver abscess, Keratitis, Conjunctivitis, Emphysema, Infectious ence... ORPHA:31204
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice ORPHA:464370
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Bronchitis, Infectious encephalitis... ORPHA:2552
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Cryptorchidism, Hepatomegaly, Intrahepatic biliary dysgenesis, Failure ... OMIM:214100
Distal Tetrasomy 15Q
Large for gestational age, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocele testis, P... ORPHA:314588
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:611881
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hypertension, Hematemesis, Hy... OMIM:301068
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Inflammation of the large intestine, Interstitial emphysema, Bronchiectasis OMIM:619708
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Left superior vena cava draining directly to ... OMIM:619657
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Airway obstruction, Arthritis, Inflammatory a... ORPHA:36412
Atrial Septal Defect, Ostium Primum Type
Abnormal respiratory system physiology, Tachypnea, Right bundle branch block, Atrial fibrillation... ORPHA:99106
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Left superior vena cava draining to coronary sinus, Recurrent pneumonia, Pulmonar... ORPHA:464738
Caudal Regression Syndrome
Cryptorchidism, Hypertension, Pulmonary hypoplasia ORPHA:3027
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pleural thickening, Asthma, Bronchiectasis, Pulmonary bulla, Recurrent lower res... OMIM:619632
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Weight loss, Respiratory failure,... ORPHA:420741
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Pneumonia, Hepatomegaly, Jaundice, Cough, Chronic mucocuta... ORPHA:276
Cat Eye Syndrome
Biliary atresia, Total anomalous pulmonary venous return OMIM:115470
Acute Promyelocytic Leukemia
Bruising susceptibility, Petechiae, Diffuse alveolar hemorrhage, Ecchymosis, Oral cavity bleeding... ORPHA:520
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Superficial dermal perivascular inflammatory infiltrate, Cryptorchidism, Pancreat... ORPHA:83617
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Ciliary Dyskinesia, Primary, 6
Sinusitis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent respiratory infections, Abnormal ci... OMIM:610852
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300