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
Annular pancreas, Pulmonary arterial hypertension, Asplenia, Aortic valve stenosis, Tetralogy of ... ORPHA:210122
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Pulmonary insufficiency, Annular pancreas, Patent ductus arteriosus, Hypo... 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 Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... OMIM:265450
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension OMIM:234810
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Ab... ORPHA:3032
Meckel Syndrome, Type 6
Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease, Absent gallbladder, Hepatic ... OMIM:612284
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Weight loss ORPHA:930
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Death in infancy OMIM:254120
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Chr... OMIM:615294
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infections, Chroni... OMIM:608971
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Pleural effusion, Obstruction of the sup... ORPHA:50251
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine aminotransferase conc... OMIM:613759
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
Pentalogy Of Cantrell
Absent gallbladder, Pulmonary hypoplasia, Polysplenia, Tetralogy of Fallot ORPHA:1335
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrophic c... OMIM:615415
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re... ORPHA:60033
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, Failure to thrive, Neon... OMIM:265120
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Interstitial Lung Disease 2
Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Elevated bronchoalveolar lavage flu... OMIM:178500
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia, Cryptorchidism OMIM:615524
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Pulmonary arterial hypertension, Emphysema, Weight loss ORPHA:1164
Distal Duplication 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Venous insufficiency, Periph... ORPHA:90308
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media OMIM:300455
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea OMIM:267450
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, Atelectasis OMIM:615872
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Left-to-right shunt, Interrupted inferior vena cava w... ORPHA:185
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor... ORPHA:70589
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress OMIM:619466
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Atopic dermatitis, Pustule, Recurrent upper and lower respirat... ORPHA:171876
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphyse... OMIM:610921
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... ORPHA:65682
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615451
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Abnormal aortic arch morphology, Hy... ORPHA:860
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Heart Defects, Congenital, And Other Congenital Anomalies
Transposition of the great arteries, Biliary atresia, Interrupted aortic arch, Pancreatic hypopla... OMIM:600001
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Isolated Biliary Atresia
Decreased liver function, Prolonged prothrombin time, Cirrhosis, Severe failure to thrive, Elevat... ORPHA:30391
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Pneumonia, Recurrent respir... OMIM:269840
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615504
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Pulmonary hypoplasia, Small for gestational age OMIM:616733
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract infection... OMIM:263000
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Re... OMIM:612444
Stuve-Wiedemann Syndrome 2
Stillbirth, Congestive heart failure, Respiratory distress, Death in adolescence, Pulmonary arter... OMIM:619751
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Abnorma... ORPHA:199241
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Transposition of the great arteries, P... ORPHA:244
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Erythema nodos... OMIM:612387
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Cryptorchidism, Abnormal aortic morphology, Tetralogy of Fallot ORPHA:1166
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary arterial hypertension, Asplenia, Aortic valve stenosis, Tetralogy of ... ORPHA:210122
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Left ventricular outflow tract ... OMIM:613854
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Neonatal death, Pulmonary hypoplasia, Tetralogy of Fallot OMIM:617925
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Cardiac arrest, Respiratory di... ORPHA:77260
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Elevated circulating... ORPHA:69663
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Skin rash, Splenomegaly, Patent ductus arteriosus, Abnormality of the pul... ORPHA:290
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Ciliary dyskinesia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis OMIM:619436
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Emphysema, Portal hypertension, Cerebral berry aneurysm, Hepatic failure OMIM:210050
Microlissencephaly
Pneumonia ORPHA:1083
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss... ORPHA:79127
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia... OMIM:610913
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616867
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Duodenal Atresia
Abnormality of the pulmonary artery, Annular pancreas, Abnormality of the pancreas ORPHA:1203
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615505
C1Q Deficiency 2
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar... OMIM:620321
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Abnormal testis morphology, Aplasia/Hypoplasia of the lungs ORPHA:1548
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Dyspnea, Hemosiderin-laden macrophages in bronchoalve... OMIM:616414
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Respiratory distress, Cardi... OMIM:613642
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Recurrent pneumonia, Recurrent sinu... OMIM:615482
Partial Atrioventricular Septal Defect
Atrial flutter, Angina pectoris, Bacterial endocarditis, Syncope, Transient ischemic attack, Atri... ORPHA:1330
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Transposition of the great arteries, Anterior pituitary agenesis, Biliary atresia, Interrupted ao... ORPHA:2255
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus OMIM:601612
Ciliary Dyskinesia, Primary, 11
Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Immotile cilia, Bronchiectasis, Recurr... OMIM:612649
Slc35A1-Cdg
Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Prolonged bleeding t... ORPHA:238459
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Atrial Septal Defect 8
Anomalous pulmonary venous return OMIM:614433
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615500
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Recurrent pneumonia, Recurr... ORPHA:60032
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Ciliary dyskinesia, Recurrent sinusitis, Bronchiectasis, Recurrent respir... OMIM:608644
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Panniculitis, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,... ORPHA:60
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Arthritis, Bronchiectasis, Failure to thrive, Recurrent upp... ORPHA:397596
Primary Pulmonary Hypoplasia
Pneumothorax, Failure to thrive, Pulmonary hypoplasia, Recurrent respiratory infections, Abnormal... ORPHA:2257
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Ectopia of the spleen, Right aortic arch, Pulmonary artery a... OMIM:613751
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Purulent rhini... OMIM:601457
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Testicular atrophy OMIM:601163
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Abnormal bleeding, Cholelith... ORPHA:77259
Heparin-Induced Thrombocytopenia
Stroke, Cerebral ischemia, Pulmonary embolism, Increased inflammatory response, Myocardial infarc... ORPHA:3325
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro... OMIM:613021
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Spider heman... ORPHA:171
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... ORPHA:2470
Zttk Syndrome
Aortic regurgitation, Failure to thrive, Unilateral lung agenesis, Patent ductus arteriosus, Abse... OMIM:617140
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Pleural effusion, Tricuspid regurgitation, Pulmon... ORPHA:2414
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infectious encephalitis ORPHA:42642
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Truncus Arteriosus
Pulmonic stenosis, Transposition of the great arteries, Aortic regurgitation, Truncus arteriosus,... ORPHA:3384
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema, Parathyroid adenoma ORPHA:122
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Nasal flarin... ORPHA:70587
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Pulmonary artery atresia, Pulmonary hypoplasia, Tetralogy of Fallot, Patent duct... OMIM:618316
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Skin rash, Hypoplasia of the thymus, Failure to thrive, R... OMIM:300400
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Pulmonary insufficiency, Abnormal ciliary motility, Ciliary dyskinesia, Chr... OMIM:614017
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Trisomy 8P
Abnormal lung lobation, Annular pancreas, Tetralogy of Fallot, Heart murmur, Recurrent upper resp... ORPHA:264450
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Recurrent respiratory infections, Hepatosplenomegaly OMIM:619126
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Tricuspid regurgitation, Coarctation of aorta, Patent ductus arteriosus, ... ORPHA:1120
Tetrasomy 9P
Jaundice, Biliary atresia, Juxtaductal coarctation of the aorta, Myositis, Arthritis, Pulmonary a... ORPHA:3310
Polyarteritis Nodosa
Pleuritis, Hypertension, Cardiomyopathy, Abnormal lung morphology, Pericarditis, Raynaud phenomen... ORPHA:767
Congenital Tracheomalacia
Pneumothorax, Emphysema, Patent ductus arteriosus, Right aortic arch, Pulmonary arterial hyperten... ORPHA:95430
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Bilateral lung agenesis, Tr... OMIM:601186
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Pneumonia, Diffuse alv... ORPHA:178320
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Meacham Syndrome
Stillbirth, Transposition of the great arteries, Cardiac total anomalous pulmonary venous connect... OMIM:608978
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Weight loss, Pulmonary fibrosis, Lymphocytic interstitial pneumonia... ORPHA:133
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Recurrent sinusitis, Immotile cilia... OMIM:615481
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Absence Of The Pulmonary Artery
Pulmonary edema, Congestive heart failure, Atrial flutter, Reduced left ventricular ejection frac... ORPHA:980
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Meconium Aspiration Syndrome
Pneumothorax, Pulmonary insufficiency, Atelectasis, Respiratory distress, Aspiration pneumonia, P... ORPHA:70588
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614935
Follicular Lymphoma
Pleural effusion, Splenomegaly, Weight loss, Abnormal peritoneum morphology ORPHA:545
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Stroke, Supraventricular arrhythmia, Transie... ORPHA:99104
Dextrocardia
Abnormal lung lobation, Pancreatic hypoplasia, Abnormality of abdominal situs, Congenital malform... ORPHA:1666
Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent bronchitis, Sinusitis, Otitis media OMIM:312863
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus, Absent ... ORPHA:163979
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... ORPHA:774
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Immotile cilia, Chronic rhinitis OMIM:618801
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Dyspnea, Elevated bronchoalve... OMIM:619611
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Absent nipple, Bilateral lung agenesis OMIM:618021
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Bronchiectasis, Eczematoid dermatitis, Rheumatoid arthritis, Failure to ... ORPHA:79128
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Caspase 8 Deficiency
Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary infections, Pneum... OMIM:607271
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Recurrent bronchitis, Bronchiectasis, Recurrent pneumonia, ... OMIM:607594
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Double outlet right ventricle, Recurrent lower respirator... OMIM:618254
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Aortic valve stenosis, Paten... ORPHA:2306
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Recurrent bronchopulmonary infections, Eczematoid dermatitis, Failure to thr... OMIM:242700
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis OMIM:211400
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Failure to thrive, Recurrent sinusitis, Recurrent... OMIM:615207
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Atelectasis, Respiratory insufficiency due to defective ciliary clearance... OMIM:615067
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Pulmonary hypoplasia, Tetralogy of Fallot, Patent ductu... ORPHA:2847
Atelosteogenesis, Type Ii
Stillbirth, Pulmonary hypoplasia OMIM:256050
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice ORPHA:464370
Kaposi Sarcoma
Venous insufficiency, Skin rash, Abnormal lung morphology, Abnormality of the spleen, Weight loss... ORPHA:33276
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertension, Neonatal death... OMIM:263200
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Atelectasis, Recurrent bronchitis, Ciliary dyskinesia, Chronic rhinitis, Br... OMIM:244400
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Tachycardia, Tachypnea ORPHA:264675
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Interrupted aortic arch OMIM:300712
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:608647
Nephroblastoma
Neoplasm of the liver, Hypertension, Neoplasm of the lung, Weight loss ORPHA:654
Extracranial Carotid Artery Aneurysm
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Total anomalous pulmonary venous r... ORPHA:494424
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Ciliary dyskinesia, Recurrent sinusitis, Immotile c... OMIM:613193
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Periportal fibrosis OMIM:263210
Felty Syndrome
Chronic otitis media, Hepatomegaly, Recurrent pharyngitis, Pleuritis, Arthritis, Synovitis, Sinus... ORPHA:47612
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Alpha-Thalassemia
Congestive heart failure, Jaundice, Cholelithiasis, Pleural effusion, Hepatosplenomegaly, Splenom... ORPHA:846
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Immotile cilia, Bronchiectasis, Rec... OMIM:616481
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Alg3-Cdg
Decreased liver function, Cardiomyopathy, Pulmonary hypoplasia, Coarctation of the descending aor... ORPHA:79321
Ciliary Dyskinesia, Primary, 41
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media OMIM:618449
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative colitis OMIM:617638
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Abnormal intrahepatic bile duct morphology, Coronary artery ... ORPHA:363618
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Anterior hypopituitarism OMIM:241800
Tonne-Kalscheuer Syndrome
Decreased testicular size, Cryptorchidism, Pulmonary hypoplasia OMIM:300978
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis ORPHA:79278
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Neonatal death, ... OMIM:618500
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis ORPHA:411703
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Coronary artery atherosclerosis, Acute hepatic steatosis, Chole... ORPHA:209902
Ciliary Dyskinesia, Primary, 14
Abnormal ciliary motility, Ciliary dyskinesia, Polysplenia, Recurrent pneumonia, Otitis media, Br... OMIM:613807
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Reticular Dysgenesis
Chronic otitis media, Skin rash, Failure to thrive, Weight loss, Recurrent respiratory infections ORPHA:33355
Diabetic Embryopathy
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality... ORPHA:1926
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased body weight, Decreased testicular size, Failure to thrive, Recurrent up... OMIM:300534
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary hypoplasia, Splenomeg... OMIM:608149
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return OMIM:618313
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Meacham Syndrome
Abnormal lung lobation, Transposition of the great arteries, Pulmonary sequestration, Conotruncal... ORPHA:3097
Isolated Agammaglobulinemia
Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Recurrent cutaneous abscess... ORPHA:229717
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Emphysema, Patent ductus arteriosus after birth at term, Transient ischemic atta... ORPHA:500150
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Ch... ORPHA:97261
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Abnormal ciliary motility, Ciliary dyskinesia, Chronic rhinitis, Recurren... OMIM:611884
Common Variable Immunodeficiency
Chronic otitis media, Purpura, Emphysema, Elevated circulating hepatic transaminase concentration... ORPHA:1572
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis OMIM:300752
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Dyspnea, Respiratory distress ORPHA:140896
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Recurrent lower respiratory tract infections, Telangiectases of the cheeks, Recur... OMIM:615139
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Small for gestational age, Pancreatic aplasia ORPHA:556955
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Hypotension OMIM:267430
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Hepatomegaly, Petechiae, Vasculitis in the skin, Splenomegaly, Recurrent upper respirato... OMIM:620296
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:236500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ... OMIM:620233
Immunodeficiency 32B
Hepatomegaly, Bronchiectasis, Sinusitis, Failure to thrive, Splenomegaly, Pneumonia, Recurrent re... OMIM:226990
Yellow Nail Syndrome
Hypoplasia of lymphatic vessels, Pleuritis, Neoplasm of the lung, Pulmonary arterial hypertension... ORPHA:662
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... ORPHA:36238
Tricuspid Atresia
Persistent left superior vena cava, Coarctation of aorta, Transposition of the great arteries, Pu... ORPHA:1209
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Eczematoid dermatitis ORPHA:96097
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Thanatophoric Dysplasia
Pulmonary hypoplasia, Patent ductus arteriosus ORPHA:2655
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:615444
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Splenomegaly, Cholelithiasis OMIM:224100
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Ciliary dyskinesia, Chronic rhinitis, Bronchiectasis, Recurrent respirato... OMIM:614679
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Melioidosis
Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit... ORPHA:31202
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Protoporphyria, Erythropoietic, 1
Hepatic failure, Cholelithiasis, Eczematoid dermatitis OMIM:177000
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Right Atrial Isomerism
Abnormal lung lobation, Transposition of the great arteries, Pulmonary artery atresia, Total anom... OMIM:208530
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia ORPHA:139466
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Hypertension, Pulmonary insufficiency, Pulmonary hypoplasia OMIM:602088
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Abnormal lung morphology, Failure to thriv... ORPHA:47
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Elevated circulating hepatic transaminase concentration, Abnormal testis morpholog... ORPHA:54251
Immunodeficiency 27A
Salmonella osteomyelitis, Hepatosplenomegaly, Splenomegaly, Weight loss, Pneumonia, Increased inf... OMIM:209950
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Abnormal pleura morphology, Pneum... ORPHA:2357
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Failure to thrive, Pulmonary hypoplasi... ORPHA:3309
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Chronic rhinitis, Recurrent ... OMIM:617091
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:616037
Timothy Syndrome
Prolonged QT interval, Bradycardia, Bronchitis, Pulmonary arterial hypertension, Tetralogy of Fal... OMIM:601005
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis OMIM:266265
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Right ventricular fa... ORPHA:2302
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Abnormal pulmonary interstitial morphology, Reticular pattern on pulmona... ORPHA:2032
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal peritoneum morphology, Testicu... ORPHA:83469
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Cryptorchidism OMIM:224410
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Congestive heart failu... ORPHA:330001
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Hepatomegaly, Hypotension, Tricuspid regurgitation, F... ORPHA:97287
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Neonatal death, Pulmonary hypoplasia, Hepati... OMIM:231680
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections OMIM:608957
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, High-output congestive... OMIM:610655
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis, Recurrent respir... OMIM:613808
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m... ORPHA:732
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Pulmonary hypoplasia, Congestive heart failure, Patent ductus arteriosus OMIM:616866
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Yao Syndrome
Pleuritis, Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Weight loss,... OMIM:617321
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Atopic dermatitis, Eczema... OMIM:243700
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Stroke, Pleural effusion, Bronchiectasis, Sinusitis, Ker... ORPHA:1163
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Ciliary dyskinesia, Chronic rhinitis, Bronchiectasis, Recurrent respiratory... OMIM:612650
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Dyspnea, Hypertrophic cardiomy... ORPHA:75249
Beta-Thalassemia
Hepatomegaly, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatitis ORPHA:848
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Hepatomegaly, Splenomegaly, Weight loss, Intracranial hemorrhage, Bruising ... ORPHA:3226
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Decreased body weight, P... OMIM:614886
Autosomal Recessive Amelia
Cryptorchidism, Aplasia/Hypoplasia of the lungs ORPHA:1027
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Right bundle branch block, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Gallbladder Disease 4
Cholelithiasis OMIM:611465
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Pheochromocytoma, Neoplasm of the lung, Primary hyperparath... ORPHA:1332
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic stenosis, Peripheral arterial ... OMIM:185500
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnor... ORPHA:79301
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion, Small for gestational age, Hypertrophic cardiomyopathy OMIM:616897
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Abnormal aortic morphology, Patent ductus arteriosus, Atrioventri... ORPHA:392
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Atopic dermatitis, Weight loss ORPHA:2902
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Bronchiectasis, Splenomegaly, Recurrent respiratory infections, Recurrent sinopulmonary infections OMIM:615513
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Weight loss, Patent ductus arterios... ORPHA:1842
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Persistent left superior vena cava, Transposition of the great arteries, Neonatal death, Pulmonar... OMIM:314390
Heterotaxy, Visceral, 6, Autosomal
Transposition of the great arteries, Right aortic arch, Total anomalous pulmonary venous return, ... OMIM:614779
Nipah Virus Disease
Hypotension, Recurrent pharyngitis, Respiratory distress ORPHA:99825
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Cryptorchidism, Pulmonic stenosis ORPHA:1131
Pulmonary Arteriovenous Malformation
Ischemic stroke, Abnormal bleeding, Liver abscess, Myocardial infarction, Bacterial endocarditis,... ORPHA:2038
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Pulmonary hypoplasia ORPHA:250999
Oligomeganephronia
Pulmonary venous occlusion, Hypertension, Pulmonary hypoplasia, Small for gestational age ORPHA:2260
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Bidirectional shunt, Pyelonephritis, Pulmonary hypoplasia, Pe... OMIM:619351
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Pulmonary insufficiency, Annular pancreas, Patent ductus arteriosus, Hypo... OMIM:265380
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Pneumocystosis
Chronic oral candidiasis, Acute infectious pneumonia, Pleural effusion, Weight loss, Multiple pul... ORPHA:723
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Aortic root aneurysm, Aortopulmonary window, Pulmonary arterial hypertension, Pulmo... OMIM:620025
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Intracranial hemorrhage,... ORPHA:284227
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Petechiae, Decreased body weight, Neonatal death, Pulmonary hypoplasia, Sp... OMIM:608013
Trisomy 10P
Absent gallbladder, Small for gestational age ORPHA:171929
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis... ORPHA:217390
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Takayasu Arteritis
Vascular dilatation, Inflammatory abnormality of the eye, Arthritis, Ascending tubular aorta aneu... ORPHA:3287
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Death in childhood, Epidural hemorrhage, Gingival bleeding, Death... OMIM:202400
Acute Interstitial Pneumonia
Atelectasis, Hypertension, Pleural effusion, Bronchiectasis, Interlobular septal thickening, Pulm... ORPHA:79126
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Jaundice, Hepatic fibrosis, Polycystic liver disease, Bile duct prolifer... OMIM:208500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Congestive heart failure, Left bundle branch block, Reduced left ventricular eje... OMIM:115197
Fetal Akinesia Deformation Sequence
Cryptorchidism, Pulmonary hypoplasia ORPHA:994
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... OMIM:175050
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress ORPHA:596
Succinic Acidemia
Respiratory distress OMIM:600335
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Erythroderma, Recu... ORPHA:169160
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Jaundice, Cholangitis, Periportal fibrosis, Hypertension, Cholestasi... ORPHA:731
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower respiratory tra... OMIM:619220
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ... ORPHA:231222
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Pulmonary artery atresia, Double aortic arch, Pulmonic stenosis, Tetralogy of ... OMIM:618780
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Bradycardia, Hypertrophic cardiomyopathy, Persisten... OMIM:618775
Jeune Syndrome
Abnormality of the liver, Aplasia/Hypoplasia of the lungs ORPHA:474
Perching Syndrome
Respiratory distress OMIM:617055
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac... ORPHA:100085
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Myotonic Dystrophy 1
Atrial flutter, Cholelithiasis, Atrial fibrillation, First degree atrioventricular block, Testicu... OMIM:160900
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi... OMIM:617092
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Systemic Capillary Leak Syndrome
Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Hypotension, Pericarditis, Weight l... ORPHA:188
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Immunodeficiency 13
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent upper... OMIM:615518
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:617180
Q Fever
Elevated circulating hepatic transaminase concentration, Pericarditis, Splenomegaly, Cholecystiti... ORPHA:781
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Partial anomalous pulmonary venous return, Asplenia, Pulmonic stenosis, Left superior vena cava d... OMIM:619657
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Respiratory distress ORPHA:91130
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Car... ORPHA:139402
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Cholelithiasis, Hypertrophic cardiomyopathy, Failure to thrive, Severel... OMIM:620646
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Smooth Muscle Dysfunction Syndrome
Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce... OMIM:613834
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Bronchiectasis, Decreased body weight ORPHA:477814
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Immotile cilia, Bronchiectasis, Chronic sinusitis OMIM:618063
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Hepatomegaly, Failure to thrive, Splenomegaly, Recurrent respiratory infe... OMIM:618495
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Bronchiectasis, Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly OMIM:618982
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Extrapulmonary lobar sequestration, Pulmonary hypoplasia, Hepatic fibrosis, Pancrea... OMIM:200995
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Abnormal pulmonary interstitial morphology, Cholelithiasis, Bacterial... ORPHA:2072
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Hadziselimovic Syndrome
Failure to thrive, Pulmonary artery atresia, Tetralogy of Fallot OMIM:612946
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusi... OMIM:240500
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism, Aplasia/Hypoplasia of the ... ORPHA:1263
Distal Triplication 15Q
Large for gestational age, Hypoplastic aortic arch, Pulmonary hypoplasia, Patent ductus arteriosu... ORPHA:314588
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Ciliary Dyskinesia, Primary, 43
Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre... OMIM:618699
Thanatophoric Dysplasia, Type I
Neonatal death, Pulmonary hypoplasia OMIM:187600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Thyr... ORPHA:436159
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch... ORPHA:183675
Hardikar Syndrome
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress OMIM:300580
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Splenomegaly, Bronchiectasis, ... OMIM:300853
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Prune Belly Syndrome
Decreased testicular size, Failure to thrive, Tetralogy of Fallot, Patent ductus arteriosus, Recu... ORPHA:2970
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Pulmonary hypoplasia, Hydrocele testis OMIM:145420
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Atelectasis, Death in infancy OMIM:300219
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Pancreatitis, Vasculitis, Hypotension, Pneumonia, Shock ORPHA:70578
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Systolic heart murmur, Anomalous pulmonary venous return, ... ORPHA:555874
Immunodeficiency 109 With Lymphoproliferation
Bronchiectasis, Splenomegaly, Recurrent sinusitis, Recurrent lower respiratory tract infections OMIM:620282
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Decreased response to growth hormone stimulation test, Pulm... ORPHA:96179
Granulomatosis With Polyangiitis
Chronic otitis media, Pleuritis, Localized pulmonary hemorrhage, Retinal hemorrhage, Episcleritis... OMIM:608710
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Irregular septal thickening on pulmonary HRCT, Weight loss, Pulmon... ORPHA:90060
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:235700
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Neoplasm of the lung, Weight loss ORPHA:142
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Caudal Regression Syndrome
Hypertension, Cryptorchidism, Pulmonary hypoplasia ORPHA:3027
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Ciliary Dyskinesia, Primary, 2
Ciliary dyskinesia, Sinusitis, Immotile cilia, Otitis media, Bronchiectasis, Recurrent respirator... OMIM:606763
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Acholic ... OMIM:613812
Heterotaxy, Visceral, 7, Autosomal
Transposition of the great arteries, Interrupted aortic arch, Right aortic arch, Pulmonary artery... OMIM:616749
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Left superior vena cava draining to coronary sinus, Recurrent pn... ORPHA:464738
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Tularemia
Inflammatory abnormality of the eye, Tachycardia, Erythema nodosum, Skin rash, Pleural effusion, ... ORPHA:3392
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Failure to thrive, Conjunctivitis, Bronchi... ORPHA:33110
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Recurrent pneumonia, Recurrent sinopulmonary infections, Atrophic gastritis,... OMIM:616576
Pagod Syndrome
Abnormal aortic morphology, Abnormal testis morphology, Pulmonary artery hypoplasia, Pulmonary hy... ORPHA:991
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Purpura, Myocardial infarction, Myositis, Arthritis, Skin ... ORPHA:183
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis,... ORPHA:3426
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Atelectasis, Retinal arterial tortuosity, Splenic cyst, Pulmonary artery atresia, D... OMIM:620371
Sialuria
Prolonged prothrombin time, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:3166
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss ORPHA:2198
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Skin rash, Inflammation of the large intestine, Failure to thrive, B... OMIM:618108
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Pneumonia OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Exertional dyspnea, Dyspnea OMIM:614370
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Hepatomegaly, Transposition of the grea... ORPHA:99125
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Elevated circulating hepatic transaminase ... ORPHA:67
Cardiac Diverticulum
Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Transp... ORPHA:1686
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Elevated bronchoalveolar lavage fluid lymphocyte proportion, C... OMIM:610978
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Failure to thrive, Pneumonia, Chronic bronchitis OMIM:242860
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Cryptorchidism, Pulmonary artery atresia ORPHA:401935
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection, Osteoarthritis, Bronchiectasis, Bruisi... OMIM:620080
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Tricuspid regurgitation OMIM:620306
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis, Recurrent upper respiratory tract infections OMIM:614069
Hypophosphatasia
Failure to thrive in infancy, Emphysema ORPHA:436
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress ORPHA:26792
Ciliary Dyskinesia, Primary, 6
Abnormal ciliary motility, Ciliary dyskinesia, Sinusitis, Recurrent sinusitis, Recurrent respirat... OMIM:610852
Avian Influenza
Pneumothorax, Congestive heart failure, Respiratory distress, Miscarriage, Pleural effusion, Dysp... ORPHA:454836
Chops Syndrome
Aspiration pneumonia, Cryptorchidism, Obesity, Splenomegaly, Patent ductus arteriosus, Anomalous ... OMIM:616368
Immunodeficiency 52
Bronchiectasis, Failure to thrive, Recurrent pneumonia, Splenomegaly OMIM:617514
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Ab... ORPHA:77293
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Gout OMIM:232800
Meckel Syndrome 14
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Hepatic fibrosis, Mitral regurgitation OMIM:619879
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Failure to thrive, Prolonged neonatal jaundice, Pu... OMIM:214100
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Patent ductus arteriosus, Cryptorchidism, Small for gest... OMIM:619148
Ppoma
Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch... ORPHA:97278
Heterotaxy, Visceral, 5, Autosomal
Patent ductus arteriosus, Atrial reentry tachycardia, Ascending tubular aorta aneurysm, Pulmonary... OMIM:270100
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Atelectasis, Vascular dilatation, Accessory spleen, Hypoplasia of the thymus, Recurren... OMIM:613177
Microsporidiosis
Bronchitis, Cachexia, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis... ORPHA:2552
Diaphanospondylodysostosis
Pulmonary hypoplasia, Abnormal liver lobulation OMIM:608022
Alveolar Echinococcosis
Decreased liver function, Jaundice, Liver abscess, Cholangitis, Abnormal spleen morphology, Bilia... ORPHA:284
Keutel Syndrome
Recurrent otitis media, Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent sin... ORPHA:85202
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia OMIM:614091
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory distress ORPHA:254875
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Stomatitis, Petechiae, Gingival bleeding, Epistaxis, Ecchymosis, Weig... ORPHA:520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Pulmonary hypoplasia, Supernumerary nipple OMIM:612530
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pleuritis, Ar... ORPHA:829
Atelosteogenesis Type I
Pulmonary hypoplasia, Abnormal pancreatic duct morphology ORPHA:1190
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Cryptogenic Organizing Pneumonia
Pneumothorax, Dyspnea, Respiratory distress ORPHA:1302
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Esophagitis, Pneumonia, Osteomyelitis OMIM:619652
Marden-Walker Syndrome
Cryptorchidism, Pulmonary hypoplasia OMIM:248700
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Heart murmur, Decreased testicular size ORPHA:1867
Fanconi Renotubular Syndrome 5
Hypertension, Lung adenocarcinoma, Emphysema, Pulmonary fibrosis OMIM:618913
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Atopic derma... OMIM:618282
Mosaic Trisomy 16
Abnormal lung morphology, Coarctation of aorta, Pulmonary hypoplasia, Patent ductus arteriosus, S... ORPHA:1708
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Skin rash, Chronic mucocutaneous candidiasis, Stroke, Recur... ORPHA:911
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Transposition of the great arteries, Biliary atresia, Hypoplastic aortic arch, Tota... OMIM:306955
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections OMIM:193670
Czeizel-Losonci Syndrome
Hypoplastic nipples, Pulmonary hypoplasia ORPHA:2437
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Erythema nodosum, Thyroiditis, Colitis, Arthritis, Bronchiectasis, Inflam... OMIM:614700
Ciliary Dyskinesia, Primary, 52
Recurrent otitis media, Transposition of the great arteries, Recurrent lower respiratory tract in... OMIM:620570
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Conjunctivitis, Arrhythmia, Patent ductus arteriosus, R... ORPHA:33001
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Triosephosphate Isomerase Deficiency
Congestive heart failure, Jaundice, Cholelithiasis, Failure to thrive, Prolonged neonatal jaundic... OMIM:615512
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Emphysema, Inflammatory abnormality of the eye, Arthritis,... ORPHA:36412
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Systolic heart murmur, Tetralogy ... OMIM:617478