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Gene: Foxf1 MGI:1347470

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

forkhead box F1

Synonyms:

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxf1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Foxf1 (2 diseases)
Human diseases predicted to be associated with Foxf1 (1308 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Alveolar Capillary Dysplasia		Respiratory distress, Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, P...	ORPHA:210122
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins		Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Pulmonary artery...	OMIM:265380

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

Disease	Matching phenotypes	Source
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia	ORPHA:930
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li...	ORPHA:3032
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Cystic liver disease, Hepatic fibrosis, Pulmonary hypopla...	OMIM:612284
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, F...	OMIM:608971
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Neona...	OMIM:614096
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ...	ORPHA:60033
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumonia, Splenomegaly, Eczem...	OMIM:269840
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar...	OMIM:619003
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff...	OMIM:245650
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Pulmonary artery atresia...	ORPHA:99050
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Panacinar e...	OMIM:613490
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist...	ORPHA:90308
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Pentalogy Of Cantrell	Absent gallbladder, Tetralogy of Fallot, Pulmonary hypoplasia, Polysplenia	ORPHA:1335
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Atopic dermatitis, Weight loss, H...	ORPHA:171876
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ...	ORPHA:185
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Left superior v...	OMIM:613759
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent...	OMIM:612444
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:1208
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Neonatal respiratory distress, Respiratory tract infection, Atele...	ORPHA:244
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac...	ORPHA:2257
Heart Defects-Limb Shortening Syndrome	Abnormality of the pulmonary artery	ORPHA:1354
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Pulmonary hypoplasia	OMIM:615524
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia	OMIM:265150
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Tachypnea, Abnormal aortic arch morphology, D...	ORPHA:860
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, P...	ORPHA:210122
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Tetralogy of Fallot, Respiratory insufficiency, Abnormal aortic morphology, Abnor...	ORPHA:1166
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema...	ORPHA:199241
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Cough, Abnormal pattern o...	ORPHA:77260
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Hypertension, Small for gestational age, Pulmonary hypoplasia	OMIM:616733
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death,...	OMIM:619751
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia	OMIM:618806
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough, Recurrent oti...	OMIM:618254
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media	OMIM:312863
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi...	OMIM:601612
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Pulmonary artery stenosis, Patent ductus arteriosus, Bilia...	OMIM:600001
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu...	OMIM:615482
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Abnormal...	ORPHA:70588
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:608644
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Miscarriage, Pulmonary embolism	ORPHA:82
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Wheezing,...	OMIM:211600
Microlissencephaly	Pneumonia	ORPHA:1083
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect...	ORPHA:79128
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pul...	OMIM:612387
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia	OMIM:178370
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane...	ORPHA:238459
Total Anomalous Pulmonary Venous Return 1	Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp...	OMIM:106700
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Small for gestational age, Pulmonary artery stenosis, Pa...	ORPHA:2255
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Absent gallbladder, Tetralogy of Fallot, Pulmonary hypoplasia	OMIM:617925
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Patent ductus arteriosus, Jaundice, Abnormality of the pul...	ORPHA:290
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Pneumothora...	ORPHA:1302
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru...	ORPHA:2414
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Nonproductive cough, Abnormal EKG, Patent ductus arteriosus,...	ORPHA:980
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti...	ORPHA:97244
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Acute Lung Injury	Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal...	ORPHA:178320
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Congenital Heart Defects, Multiple Types, 6	Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri...	OMIM:613854
Heparin-Induced Thrombocytopenia	Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Abnormal onset of ble...	ORPHA:3325
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar...	OMIM:601457
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:300991
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Partial Atrioventricular Septal Defect	Recurrent respiratory infections, Atrial flutter, Transient ischemic attack, Angina pectoris, Pat...	ORPHA:1330
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, Recurrent otitis media, Recurre...	ORPHA:397596
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R...	OMIM:620321
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613807
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t...	ORPHA:774
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Patent ductus arteriosus, Hypoxemia, Pulmonary hypoplasia, Pulmona...	ORPHA:2847
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery	ORPHA:1203
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:255320
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Heart murmur, Respiratory insuffici...	ORPHA:163979
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia	OMIM:619057
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery	ORPHA:895
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Chronic oral c...	OMIM:300400
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Patent ductus arteriosus, Cryptorchidism, Alveolar capillary dyspl...	OMIM:601186
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Failure to thrive	OMIM:607271
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly	OMIM:619126
Atelosteogenesis, Type Ii	Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:256050
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac...	ORPHA:36238
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoxemia, Absent gallbladder, Small for gestational age, Pancreatic aplasia	ORPHA:556955
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia	OMIM:617638
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pneumonia, Abnormally loud p...	ORPHA:99104
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary ve...	ORPHA:1120
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Pneumonia	OMIM:247800
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur...	OMIM:607594
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Weight loss	ORPHA:545
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Unilateral lung agenesis, Patent ductus arteriosus, Fai...	OMIM:617140
Achondrogenesis Type 2	Pulmonary hypoplasia, Cardiorespiratory arrest	ORPHA:93296
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal...	OMIM:620233
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:3346
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen mor...	ORPHA:2470
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder,...	ORPHA:171
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Cryptorchidism, Patent ductus arteriosus, Pulm...	OMIM:618316
Tetrasomy 9P	Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Myositis, Raynaud phenome...	ORPHA:3310
Neonatal Alloimmune Neutropenia	Jaundice, Pneumonia	ORPHA:464370
Succinic Acidemia	Respiratory distress	OMIM:600335
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Trisomy 8P	Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal lung lobation, Heart murmu...	ORPHA:264450
Meacham Syndrome	Accessory spleen, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctatio...	OMIM:608978
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Portal hypertension, Cirrhosis, Emphysema, Hepatic failure, Cerebral berry aneurysm	OMIM:210050
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Heterotaxy, Visceral, 4, Autosomal	Dextrotransposition of the great arteries, Right aortic arch, Midline liver, Interrupted inferior...	OMIM:613751
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati...	ORPHA:97287
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613808
Nephronophthisis 2	Respiratory insufficiency, Hypertension, Respiratory failure, Chronic tubulointerstitial nephriti...	OMIM:602088
Renal Tubular Dysgenesis	Hypotension, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef...	ORPHA:45452
Atrial Septal Defect 8	Anomalous pulmonary venous return	OMIM:614433
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Weight loss, Cardiomyopathy, Hyperten...	ORPHA:767
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology	ORPHA:1548
Dextrocardia	Abnormal EKG, Abnormality of the spleen, Abnormal lung lobation, Abnormality of abdominal situs, ...	ORPHA:1666
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Immunodeficiency 56	Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect...	OMIM:615207
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D...	OMIM:617092
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo...	ORPHA:662
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Craniofacioskeletal Syndrome	Absent gallbladder, Patent ductus arteriosus, Interrupted aortic arch, Cryptorchidism	OMIM:300712
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Kaposi Sarcoma	Skin rash, Venous insufficiency, Abnormality of the spleen, Abnormal lung morphology, Weight loss...	ORPHA:33276
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Recurrent ...	ORPHA:47612
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Dyspnea, Chronic pu...	ORPHA:1163
Thanatophoric Dysplasia	Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:2655
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly	ORPHA:2204
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Neoplasm of the lung, Strid...	ORPHA:142
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn...	ORPHA:1572
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic root aneurysm, Aortic ath...	ORPHA:363618
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Birt-Hogg-Dubé Syndrome	Parathyroid adenoma, Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Hepatospl...	OMIM:209950
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi...	ORPHA:2357
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ...	ORPHA:400
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczema, Decreased liver function, Cirrhosis	ORPHA:79278
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per...	OMIM:263200
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the...	ORPHA:2306
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul...	OMIM:618500
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Tetraamelia Syndrome 2	Bilateral lung agenesis, Absent nipple, Hypoplastic pulmonary veins	OMIM:618021
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Immunodeficiency 52	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Chronic lung disease	OMIM:617514
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Cholelithiasis, Hypertrophic ca...	ORPHA:848
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:263210
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Alg3-Cdg	Cardiomyopathy, Pulmonary hypoplasia, Decreased liver function, Coarctation of the descending aor...	ORPHA:79321
Kagami-Ogata Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmonic stenosis, Pu...	OMIM:608149
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasi...	OMIM:226990
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Failure to thrive in inf...	ORPHA:500150
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Nephroblastoma	Neoplasm of the lung, Hypertension, Weight loss, Neoplasm of the liver	ORPHA:654
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem...	ORPHA:90060
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Right aortic arch with mirror image branching	OMIM:606217
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip...	OMIM:231680
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Cryptorchidism, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:224410
Diabetic Embryopathy	Cryptorchidism, Abnormality of the pancreas, Tetralogy of Fallot, Abnormal aortic morphology, Tra...	ORPHA:1926
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke...	OMIM:617321
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy...	ORPHA:2038
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Pulmonary hypoplasia	OMIM:241800
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Arthralgia/arthritis, Ost...	ORPHA:449280
Perching Syndrome	Respiratory distress	OMIM:617055
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Aortic ath...	ORPHA:209902
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ...	ORPHA:217390
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Elevated circulating growth ...	ORPHA:97261
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Bradycardia, Cholelithiasis, Hypertrophi...	OMIM:618775
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i...	ORPHA:330001
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol...	ORPHA:47
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rhinitis, Respirator...	OMIM:614874
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Tonne-Kalscheuer Syndrome	Decreased testicular size, Cryptorchidism, Pulmonary hypoplasia	OMIM:300978
Distal Duplication 5Q	Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, C...	OMIM:160900
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, D...	OMIM:300534
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness	OMIM:300580
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Abnormal pleura morphology, Crackles, Dyspnea, Restrictive ventilatory defec...	ORPHA:210136
Takayasu Arteritis	Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial...	ORPHA:3287
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Eczema	OMIM:177000
Melioidosis	Shock, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, A...	ORPHA:31202
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Stillbirth, Pulmonary hypoplasia	OMIM:236500
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo...	OMIM:242700
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Weight loss, Chronic otitis media, Failure to thrive	ORPHA:33355
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia	OMIM:266265
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P...	ORPHA:3309
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Stroke-like episode, Hematochezia, Cholestat...	ORPHA:79095
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy...	OMIM:616866
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im...	OMIM:618063
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress	OMIM:620011
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed...	OMIM:202400
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Prolonged bleeding time, Hepatomegaly, Splenomegaly, Weight los...	ORPHA:3226
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Weight loss, Hypotension, Cough,...	ORPHA:188
Fetal Akinesia Deformation Sequence	Cryptorchidism, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:994
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy...	ORPHA:747
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter...	OMIM:619351
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Stomatitis	ORPHA:438274
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells	OMIM:604809
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Patent ductus arteriosus, Respiratory insufficien...	ORPHA:1842
Timothy Syndrome	Prolonged QT interval, Pneumonia, Bronchitis, Patent ductus arteriosus, Ventricular tachycardia, ...	OMIM:601005
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Primary Effusion Lymphoma	Dyspnea, Pleural effusion	ORPHA:48686
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Splenomegaly, Respiratory insufficiency	ORPHA:1046
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia...	OMIM:608013
Meacham Syndrome	Abnormality of the spleen, Patent ductus arteriosus, Cryptorchidism, Abnormal lung lobation, Anom...	ORPHA:3097
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Serkal Syndrome	Pulmonary hypoplasia, Pulmonic stenosis	ORPHA:139466
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Aortopulmonary collateral arteries, Cryptorchidism, ...	OMIM:620025
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Familial Isolated Restrictive Cardiomyopathy	Recurrent respiratory infections, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Hepato...	ORPHA:75249
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure,...	ORPHA:231222
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Tricuspid Atresia	Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries...	ORPHA:1209
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Abnormal lung morpholo...	ORPHA:54251
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Decreased body weight, Cholelithiasis, D...	OMIM:614886
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard...	ORPHA:139402
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis media, Chroni...	ORPHA:169160
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis	OMIM:615513
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan...	ORPHA:99125
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Abnormality of...	ORPHA:284227
Right Atrial Isomerism	Aortopulmonary collateral arteries, Asplenia, Abnormal lung lobation, Total anomalous pulmonary v...	OMIM:208530
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Small ...	ORPHA:555874
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Renal Hypodysplasia/Aplasia 1	Hypertension, Pulmonary hypoplasia	OMIM:191830
Diamond-Blackfan Anemia 20	Total anomalous pulmonary venous return	OMIM:618313
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Sple...	ORPHA:79301
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Upper airway obstruction, Hepatosplenomegaly, Prolon...	ORPHA:3166
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,...	ORPHA:137914
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Pleural effusion, Small for gestational age, Pulmonary hypoplasia	OMIM:616897
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Persistent left superior vena cava, Pulmonary hypoplasia, Transposition of the great arteries, Ne...	OMIM:314390
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,...	OMIM:615512
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo...	OMIM:620326
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Pulmonary artery...	OMIM:265380
Jeune Syndrome	Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Respiratory insufficiency	ORPHA:474
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
Trisomy 10P	Absent gallbladder, Small for gestational age	ORPHA:171929
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Thanatophoric Dysplasia, Type I	Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:187600
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis, Fluctuating...	OMIM:619220
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusi...	OMIM:240500
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl...	OMIM:115197
Laryngeal Neuroendocrine Tumor	Weight loss, Adrenocorticotropic hormone excess, Exertional dyspnea	ORPHA:100083
Immunodeficiency 13	Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron...	OMIM:615518
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Weight l...	ORPHA:1332
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Bilateral c...	ORPHA:96179
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Inflamm...	OMIM:618108
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Rig...	ORPHA:100085
Tularemia	Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis...	ORPHA:3392
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis...	ORPHA:183675
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu...	OMIM:616576
X-Linked Mandibulofacial Dysostosis	Cryptorchidism, Abnormality of the pulmonary artery, Pulmonic stenosis	ORPHA:1131
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Ciliary Dyskinesia, Primary, 37	Goiter, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinorrhea	OMIM:617577
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Pulmonary hypoplasia	ORPHA:250999
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Vasculitis, Resp...	ORPHA:183
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Diaphanospondylodysostosis	Respiratory distress, Respiratory insufficiency, Abnormal liver lobulation, Pulmonary hypoplasia,...	OMIM:608022
Oligomeganephronia	Hypertension, Pulmonary venous occlusion, Small for gestational age, Pulmonary hypoplasia	ORPHA:2260
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen, Splenomegaly, Abnormal pul...	ORPHA:2072
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Splenomegaly, Recur...	ORPHA:436159
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly,...	OMIM:618495
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Chole...	ORPHA:521219
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly	OMIM:618982
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At...	ORPHA:392
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta...	OMIM:175050
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Lung abscess, Liver abscess, Dyspnea, Congestive heart failure, We...	ORPHA:67
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy	ORPHA:26792
Malaria	Respiratory distress	ORPHA:673
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis	OMIM:620282
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren...	OMIM:620014
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu...	ORPHA:1329
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cholelithias...	ORPHA:77293
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea	ORPHA:2759
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm...	OMIM:200995
Heterotaxy, Visceral, 6, Autosomal	Right aortic arch, Abdominal situs inversus, Total anomalous pulmonary venous return, Transpositi...	OMIM:614779
Cardiomyopathy, Dilated, 2H	Reduced left ventricular ejection fraction, Tachypnea, Neonatal death, Cardiorespiratory arrest	OMIM:620203
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis	OMIM:614069
Distal Triplication 15Q	Large for gestational age, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocele testis, P...	ORPHA:314588
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Cryptorchidism, Pat...	OMIM:214100
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Atelectasis, Recurrent pneumonia, Hypopla...	OMIM:613177
Meckel Syndrome 14	Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, Hepatic fi...	OMIM:619879
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Dyspnea, Abnor...	ORPHA:284
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive	OMIM:242860
Chops Syndrome	Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Obesity, Anomalous pulmonary venous retur...	OMIM:616368
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi...	OMIM:618780
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Prolonged QT interval, Tachycardia, Hepatomegaly, Elevated hepatic transami...	ORPHA:26793
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Cholelithiasis, Left superior vena cava dra...	ORPHA:464738
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Decreased DLCO, Pulmonary fibrosis, Cough, Reticular pattern on pulmonary HRCT...	OMIM:614742
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Splenomegaly, ...	OMIM:614700
Acute Promyelocytic Leukemia	Abnormal bleeding, Purpura, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Weight loss...	ORPHA:520
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia	OMIM:312150
Glycogen Storage Disease Vii	Cholelithiasis, Jaundice, Gout	OMIM:232800
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Failure to thrive, Tachypnea, Double outlet right ventricle, Hea...	ORPHA:3426
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Weight loss	ORPHA:2198
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs, Cryptorchidism	ORPHA:1027
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema	OMIM:618307
Diarrhea 12, With Microvillus Atrophy	Respiratory tract infection, Bronchiectasis	OMIM:619445
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Fusariosis	Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Productive cough, Maculopapular exanthem...	ORPHA:228119
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous ...	OMIM:619657
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Osteoarthritis, Descending aortic dissection, Bronchiectasis, Ascending aortic dissection, Bruisi...	OMIM:620080
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Sickle Cell Disease	Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Hypertension, Stroke, Cholel...	OMIM:603903
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Sickle Cell Anemia	Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Cholestasis, Hypoxemia	ORPHA:232
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Ciliary Dyskinesia, Primary, 6	Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili...	OMIM:610852
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus	OMIM:614432
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c...	ORPHA:911
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Small for gestational age, Failure to thr...	ORPHA:1199
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat...	ORPHA:2552
Pagod Syndrome	Sudden cardiac death, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic mor...	ORPHA:991
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Patent ductus arteriosus, Splenomegaly, Respiratory insufficiency, Per...	OMIM:269860
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, He...	ORPHA:85443
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammato...	ORPHA:83617
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Elevated circulating growth ...	ORPHA:97278
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis	OMIM:619652
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Intraventricular hemorrhage, Neonatal asphyxi...	ORPHA:420741
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplasia	OMIM:145420
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Chronic otitis...	ORPHA:567
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis	OMIM:619708
Congenital Myopathy 17	Respiratory tract infection, Failure to thrive in infancy, Pulmonary hypoplasia, Respiratory insu...	OMIM:618975
Hadziselimovic Syndrome	Pulmonary artery atresia, Failure to thrive, Tetralogy of Fallot	OMIM:612946
Caudal Regression Syndrome	Hypertension, Pulmonary hypoplasia, Cryptorchidism	ORPHA:3027
Graft Versus Host Disease	Elevated hepatic transaminase, Tachycardia, Fasciitis, Myositis, Pneumonia, Maculopapular exanthe...	ORPHA:39812
Nocardiosis	Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysem...	ORPHA:31204
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness	OMIM:613561
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:253290
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Chronic oral candidiasis, Recurrent bacterial skin infections, Skin rash, Pneumonia...	ORPHA:276
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Vasculitis in the skin, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Dyspnea, Splenomegaly, Emphysema, Enlarged lacrimal glands, Bronchiectasis, Abnorma...	OMIM:181000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Digeorge Syndrome	Parathyroid hypoplasia, Hypoplasia of the thymus, Hepatic steatosis, Parathyroid agenesis, Acne, ...	OMIM:188400
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, ...	ORPHA:99931
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:1865
Giant Cell Arteritis	Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Cough, Recurrent phary...	ORPHA:397
Chromosome 13Q33-Q34 Deletion Syndrome	Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Pulmonary hypoplasia, Pulmon...	OMIM:619148
Immunodeficiency 77	Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess	OMIM:619223
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Eosinop...	OMIM:243700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Abnormal capillary physiology, Upper airway obstruction	ORPHA:100057
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Bronchiectasis, Osteomyelitis	OMIM:608184
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis, Cough	OMIM:619468
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Ecchymosis, Infectious encephali...	ORPHA:36234
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Cough, Chronic otitis media, Vasculitis, Chronic pulmonary obstruction, ...	ORPHA:900
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Pulmonary hypoplasia	OMIM:614091
Mosaic Trisomy 16	Small for gestational age, Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aor...	ORPHA:1708
Omenn Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Thyroiditis, Erythroderma, Failure to thrive	ORPHA:39041
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Pulmonary hypoplasia, Supernumerary nipple	OMIM:612530
Heterotaxy, Visceral, 7, Autosomal	Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azygous conti...	OMIM:616749
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Thymoma	Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Weight loss, Obstruction of the superi...	ORPHA:99867
Hypophosphatasia	Emphysema, Failure to thrive in infancy, Respiratory insufficiency	ORPHA:436
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Chronic oral candidiasis, Osteomyelitis, Recurrent skin infecti...	OMIM:618282
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Mitral stenosis, Asplenia, Patent du...	OMIM:306955
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Marden-Walker Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:248700
Cardiac Diverticulum	Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul...	ORPHA:1686
Acute Myelomonocytic Leukemia	Abnormal bleeding, Dyspnea, Weight loss	ORPHA:517
Boomerang Dysplasia	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Decreased response to growth hormone stimulation...	ORPHA:1263
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Tachycardia, Unilateral cryptorchidism, Tracheomalacia...	OMIM:618280
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Czeizel-Losonci Syndrome	Hypoplastic nipples, Pulmonary hypoplasia	ORPHA:2437
Mosaic Trisomy 1	Pulmonary artery atresia, Hepatic agenesis, Pulmonary hypoplasia, Coarctation of aorta	ORPHA:1692
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Cardiomyopathy, Dyspnea, Cough	ORPHA:86812
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung...	ORPHA:167635
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Pulmonary hypoplasia	ORPHA:1190
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Cachexi...	ORPHA:3452
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni...	OMIM:240300
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Hepa...	OMIM:615952
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega...	ORPHA:905
Hereditary Bullous Dystrophy, Macular Type	Decreased testicular size, Cryptorchidism, Pneumonia, Heart murmur	ORPHA:1867
Genitopatellar Syndrome	Cryptorchidism, Apnea, Pulmonary hypoplasia	ORPHA:85201
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai...	OMIM:620278
Immunodeficiency 62	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Prune Belly Syndrome	Recurrent respiratory infections, Failure to thrive, Cryptorchidism, Patent ductus arteriosus, Ap...	ORPHA:2970
Hereditary Spherocytosis	Hepatomegaly, Maculopapular exanthema, Splenomegaly, Jaundice, Gout, Restrictive cardiomyopathy, ...	ORPHA:822
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Pu...	OMIM:618394
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hypertension, Chole...	ORPHA:3202
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Rhabdoid Tumor	Respiratory insufficiency, Weight loss, Hypertension, Neoplasm of the liver, Internal hemorrhage	ORPHA:69077
Igg4-Related Aortitis	Increased inflammatory response, Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morpholog...	ORPHA:449400
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Inflammation of the large intestine, Respiratory insufficiency, W...	ORPHA:26790
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Recurrent upp...	OMIM:301082
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Bradycardia, Severe failure to thrive, Cholelithiasis, A...	ORPHA:97297
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Hypoplasia of the thymus, Pulmonary hypoplasia	OMIM:617022
Thoracoabdominal Syndrome	Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of the great arteries	OMIM:313850
Lymphedema-Distichiasis Syndrome	Recurrent skin infections, Patent ductus arteriosus, Varicose veins, Tubulointerstitial nephritis...	ORPHA:33001
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Cryptorchidism, Pulmonary hypoplasia, Failure to thrive, Aortic an...	ORPHA:2990
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Dyspnea, Splenomegaly, Emphysema, Uveitis, Pleural effusio...	ORPHA:36412
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi...	OMIM:618986
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Respiratory insufficien...	ORPHA:702
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis...	ORPHA:1304
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo...	OMIM:619752
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Lymphocytic interstitial pneumonia	OMIM:247610
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig...	ORPHA:679
Autosomal Recessive Spondylocostal Dysostosis	Cryptorchidism, Respiratory insufficiency, Anomalous pulmonary venous return	ORPHA:2311
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Farber Disease	Respiratory distress, Elevated hepatic transaminase, Failure to thrive, CNS foam cells, Intrahepa...	ORPHA:333
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Recurrent upper respiratory tract i...	OMIM:602450
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia	OMIM:618253
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Immunodeficiency 58	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Allergic rhinitis, Eczem...	OMIM:618131
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	ORPHA:131
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Patent ductus arteriosus, Respiratory insufficiency, Stillbirth, Pulmonary hypopl...	OMIM:616300
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Microcephaly-Micromelia Syndrome	Neonatal death, Pulmonary hypoplasia	OMIM:251230
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Sinusitis, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infect...	OMIM:613179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Weight loss, Cough	ORPHA:391
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic...	ORPHA:500
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Achondroplasia	Respiratory distress, Upper airway obstruction, Recurrent otitis media, Pulmonary hypoplasia	OMIM:100800
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis	OMIM:615636
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Right aortic arch, Interrupted aortic arch, Truncus ar...	OMIM:617478
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Recurrent pancreatitis, Decreased liver fun...	OMIM:618268
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral ca...	OMIM:150550
Tarp Syndrome	Failure to thrive, Apnea, Cryptorchidism, Pulmonary hypoplasia, Tetralogy of Fallot, Persistent l...	ORPHA:2886
14Q24.1Q24.3 Microdeletion Syndrome	Pulmonary artery atresia, Cryptorchidism, Truncus arteriosus	ORPHA:401935
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Asplenia, Patent ductus arteriosus, Partial ...	OMIM:270100
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respirato...	ORPHA:29207
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Cough, Chronic o...	ORPHA:2314
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Respiratory...	ORPHA:536467
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Neonatal dea...	OMIM:619167
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Failure to thrive ...	ORPHA:79124
Omenn Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Failure to thrive	OMIM:603554
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Hydrocele testis, Patent ductus arteriosus, Pulmonary hypoplasia, Large for gestational age	OMIM:614080
Thymic Carcinoma	Dyspnea, Abnormal vena cava morphology, Weight loss, Cough	ORPHA:99868
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Splen...	ORPHA:77297
Acro-Renal-Mandibular Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:958
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Recurrent upper ...	OMIM:616100
Fanconi Renotubular Syndrome 5	Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma	OMIM:618913
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ...	OMIM:614878
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis,...	ORPHA:974
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left ve...	ORPHA:57777
8P23.1 Microdeletion Syndrome	Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Obesity, Weight loss, Abnorm...	ORPHA:251071
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Tetralogy of Fallot, Prolonged PR interval, Atrial fibrillation	OMIM:108900
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pancreatic islet cell adenoma, Pituitary adenoma, Primary hyperparat...	ORPHA:97289
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He...	ORPHA:728
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Patent...	ORPHA:3092
Cocaine Intoxication	Respiratory distress, Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infar...	ORPHA:90068
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Abnormal internal carotid artery morphology, Hepatomegaly, Respiratory trac...	ORPHA:365
Thanatophoric Dysplasia Type 2	Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Respiratory insufficiency	ORPHA:93274
15Q11.2 Microdeletion Syndrome	Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta	ORPHA:261183
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia	OMIM:253700
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res...	OMIM:619632
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund...	OMIM:613243
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Tubulointerstitial nephritis, Colitis, Psoriasiform dermatitis, H...	ORPHA:37042
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition...	OMIM:620294
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Ray...	ORPHA:247691
Achondrogenesis	Aplasia/Hypoplasia of the lungs	ORPHA:932
Fryns Syndrome	Cryptorchidism, Abnormal aortic arch morphology, Abnormal aortic morphology, Pulmonary hypoplasia...	ORPHA:2059
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory ...	OMIM:604377
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Elevated he...	ORPHA:36426
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Neoplas...	ORPHA:2126
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Cerebrotendinous Xanthomatosis	Angina pectoris, Respiratory insufficiency, Cholelithiasis, Myocardial infarction	OMIM:213700
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Cachexia, Respiratory insufficiency	ORPHA:157973
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis...	ORPHA:486
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the parathyroid gland	ORPHA:3429
Pauci-Immune Glomerulonephritis	Purpura, Glomerulonephritis, Dyspnea, Crescentic glomerulonephritis, Scleritis, Tubulointerstitia...	ORPHA:93126
Stuve-Wiedemann Syndrome 1	Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmonary hypoplasia, Pu...	OMIM:601559
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali...	ORPHA:73263
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti...	ORPHA:340
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Renal Agenesis	Hypertension, Pulmonary hypoplasia	ORPHA:411709
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Mem...	ORPHA:48435
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Distal Deletion 15Q	Small for gestational age, Double outlet right ventricle with doubly committed ventricular septal...	ORPHA:1596
Desmosterolosis	Splenomegaly, Patent ductus arteriosus, Failure to thrive, Anomalous pulmonary venous return	ORPHA:35107
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Cat Eye Syndrome	Patent ductus arteriosus, Biliary atresia, Total anomalous pulmonary venous return, Pulmonic sten...	OMIM:115470
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Dyspnea, Congestive h...	ORPHA:75566
Heterotaxy, Visceral, 12, Autosomal	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex...	OMIM:619702
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bro...	OMIM:614868
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, C...	ORPHA:319213
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Bilater...	ORPHA:2326
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Congestive heart failure...	OMIM:261740
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, ...	ORPHA:83471
Ogden Syndrome	Apnea, Microvesicular hepatic steatosis, Ventricular tachycardia, Macrovesicular hepatic steatosi...	OMIM:300855
Fontaine Progeroid Syndrome	Prominent superficial veins, Tricuspid regurgitation, Absent nipple, Small for gestational age, C...	OMIM:612289
Familial Thrombocytosis	Abnormal bleeding, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Weight ...	ORPHA:71493
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology	ORPHA:2570
Achondrogenesis Type 1B	Aplasia/Hypoplasia of the lungs	ORPHA:93298
Immunodeficiency 31C	Hepatomegaly, Recurrent respiratory infections, Chronic oral candidiasis, Osteomyelitis, Eczema, ...	OMIM:614162
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Gaucher Disease Type 1	Hepatomegaly, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpho...	ORPHA:77259
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs	ORPHA:2635
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Weight loss, Rhinitis	ORPHA:507
Meier-Gorlin Syndrome 7	Heart block, Cryptorchidism, Second degree atrioventricular block, Breast aplasia, Pulmonary hypo...	OMIM:617063
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycyst...	ORPHA:2869
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Acute hepati...	ORPHA:537
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia	OMIM:200600
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent as...	OMIM:230900
Alg9-Cdg	Hepatomegaly, Tricuspid regurgitation, Asthma, Abnormal lung lobation, Periportal fibrosis, Hypop...	ORPHA:79328
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hepatomegaly, Pneumonia, Chronic otitis media	ORPHA:169090
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Emphysema, Pulmonary fibrosis, Portal hypertension	OMIM:620365
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Shigellosis	Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Cholestasis, Uveitis, Ulcerati...	ORPHA:810
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Cardiomyopathy, Respiratory fa...	ORPHA:258
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Aortic Arch Interruption	Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa...	ORPHA:2299
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:100024
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs	ORPHA:93299
Cerebrotendinous Xanthomatosis	Precocious atherosclerosis, Abnormal lung morphology, Prolonged neonatal jaundice, Cholelithiasis...	ORPHA:909
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Craniosynostosis, Herrmann-Opitz Type	Aplasia/Hypoplasia of the lungs	ORPHA:2145
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Gm1 Gangliosidosis	Recurrent respiratory infections, Congestive heart failure, Patent ductus arteriosus, Splenomegal...	ORPHA:354
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia	ORPHA:204
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia	OMIM:273395
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Erythrokeratodermia Variabilis	Abnormal testis morphology, Skin rash, Weight loss	ORPHA:317
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Immunodeficiency 12	Skin rash, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, Decreased body weight, Recur...	OMIM:615468
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Failure ...	ORPHA:2929
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Aplasia of the thymus, Pneumonia, ...	OMIM:102700
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem...	ORPHA:743
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Interstitial pneumonitis	ORPHA:231154
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Greenberg Dysplasia	Hepatomegaly, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Panc...	OMIM:215140
Seckel Syndrome 9	Small for gestational age, Recurrent respiratory infections, Pulmonary artery hypoplasia, Asthma	OMIM:616777
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hepatomegaly, Atelectasis, Microvesicular hepatic steatosis, Ta...	OMIM:618278
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100080
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Congestive heart failure, Abnormal p...	ORPHA:35687
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ...	OMIM:600802
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Partial anomalous pulmonary venous retu...	OMIM:619343
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Tricuspid regurgitation, Hepatic fibrosis, Pulmonary hypoplasia	OMIM:263520
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Congestive heart...	ORPHA:465508
Carnitine Deficiency, Systemic Primary	Respiratory distress, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Hypertrophi...	OMIM:212140
Idiopathic Steroid-Resistant Nephrotic Syndrome	Respiratory tract infection, Minimal change glomerulonephritis, Peritonitis, Pulmonary embolism	ORPHA:567548
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Melena, ...	OMIM:158310
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Chronic Hiccup	Weight loss	ORPHA:396
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Neonatal asphyxia, Abnormal lung morphology, Pa...	ORPHA:141127
Perry Syndrome	Central hypoventilation, Hypotension, Weight loss	ORPHA:178509
Unilateral Polymicrogyria	Epistaxis, Stroke, Apnea, Pulmonary arteriovenous malformation	ORPHA:268943
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Decreased nasal nitric oxide, Bronchiectasis, Productive cough	OMIM:615434
Tetraploidy	Aplasia/Hypoplasia of the lungs	ORPHA:3305
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los...	ORPHA:1018
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis	OMIM:301066
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy	OMIM:619383
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Weight loss	ORPHA:168811
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Congenital Enterovirus Infection	Respiratory distress, Abnormal bleeding, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion	ORPHA:292
Atelosteogenesis Type Ii	Tracheobronchomalacia, Pulmonary hypoplasia	ORPHA:56304
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat...	OMIM:616482
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Cardiomyopathy	ORPHA:79312
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100082
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation	ORPHA:2063
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Small for gestational age, Pulmonary arteriove...	OMIM:606721
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif...	ORPHA:99827
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Stroke-like episode, Intracra...	ORPHA:86309
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Listeriosis	Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Infectious encephalitis, Pyel...	ORPHA:533
Meier-Gorlin Syndrome 4	Cryptorchidism, Emphysema, Failure to thrive, Breast hypoplasia	OMIM:613804
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:66661
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Splenomegaly, Va...	OMIM:615846
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, ...	ORPHA:2298
Isaacs Syndrome	Weight loss	ORPHA:84142
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Telangiectasia	OMIM:608799
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Patent duct...	OMIM:249000
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Weight loss	ORPHA:85447
Mirage Syndrome	Cryptorchidism, Patent ductus arteriosus, Intracranial hemorrhage, Aspiration pneumonia, Decrease...	OMIM:617053
Tetanus	Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia	ORPHA:3299
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Stillbirth, Pulmonary hypoplasia	OMIM:308050
Hereditary Elliptocytosis	Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:288
Fryns Syndrome	Ectopic pancreatic tissue, Large for gestational age, Cryptorchidism, Stillbirth, Chylothorax, Pu...	OMIM:229850
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure	OMIM:617809
Multiple Pterygium Syndrome, Escobar Variant	Cryptorchidism, Neonatal respiratory distress, Hypoplastic nipples, Pulmonary hypoplasia	OMIM:265000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Cerebral ischemia	ORPHA:927
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Cryptorchidism, Patent ductus arteriosus, Splenomegaly, Abnormal lung lobat...	OMIM:270400
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia	OMIM:616430
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit...	ORPHA:1546
Desmosterolosis	Patent ductus arteriosus, Failure to thrive, Total anomalous pulmonary venous return	OMIM:602398
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Cholecystitis, Sialadeniti...	ORPHA:449395
Otopalatodigital Syndrome Type 2	Failure to thrive, Pulmonary hypoplasia	ORPHA:90652
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism, Failure to thrive	ORPHA:90790
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My...	ORPHA:221
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus, Pulmonary hypoplasia	ORPHA:1112
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Intestinal lymphangiectasia, Abnormal lymphatic vessel morpholo...	ORPHA:90362
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co...	OMIM:617303
Vacterl With Hydrocephalus	Cryptorchidism, Pulmonary hypoplasia	ORPHA:3412
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Weight loss, Arthritis, Infl...	ORPHA:324964
Isolated Atp Synthase Deficiency	Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Tac...	OMIM:613658
Raine Syndrome	Neonatal death, Pulmonary hypoplasia	OMIM:259775
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap...	ORPHA:348
Atypical Werner Syndrome	Hepatic steatosis, Prominent superficial veins, Decreased body weight, Telangiectasia of the skin...	ORPHA:79474
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Agenesis of pineal gland, Cryptorchidism, Respiratory insufficiency, Ascen...	ORPHA:536471
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Decreased response to growth hormone stimulation test, Raynaud phenomenon, ...	ORPHA:1855
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R...	ORPHA:3260
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia	ORPHA:79243
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibr...	OMIM:619377
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:94080
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Asthma, Erythroderma, Emphysema	ORPHA:634
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Decreased liver function, Arrhythmia, Hepa...	ORPHA:42
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Right aortic arch, Abdominal situs inversus, Pulmonary artery...	OMIM:617205
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Recurrent lo...	OMIM:226300
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa...	ORPHA:275761
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Reduced forced expira...	ORPHA:586
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a...	OMIM:603467
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Cryptorchidism, Abnormal ...	OMIM:301056
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Bronchiectasis	OMIM:241600
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct...	OMIM:610338
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Epididymitis, Bronchiectasis, Prostatitis, ...	OMIM:300755
Peritoneal Cystic Mesothelioma	Peritonitis, Menorrhagia, Weight loss	ORPHA:168816
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax...	ORPHA:538
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ...	OMIM:601495
Williams Syndrome	Abnormal cerebral vascular morphology, Myocardial infarction, Chronic otitis media, Overriding ao...	ORPHA:904
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Perioral eczema	ORPHA:79242
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu...	ORPHA:2905
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Dyspnea, Bronchiectasis, Mitral regurgitation, Em...	OMIM:123700
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Resp...	ORPHA:367
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi...	ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Coccidioidomycosis	Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Abnor...	ORPHA:228123
Secondary Short Bowel Syndrome	Enterocolitis, Cholestasis, Weight loss, Failure to thrive, Atherosclerosis	ORPHA:95427
Neu-Laxova Syndrome	Pulmonary hypoplasia	ORPHA:2671
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive	ORPHA:217346
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Thanatophoric Dysplasia Type 1	Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Respiratory insufficiency	ORPHA:1860
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Coarctation of aorta	ORPHA:50945
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:616503
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Holzgreve Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal mesentery morphology	ORPHA:2167
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Dyspnea, Weight loss, Cardiomyopathy, ...	ORPHA:79430
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Interrupted aortic arch, Unilateral primary pulmonary dysgene...	OMIM:192430
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Respiratory insufficiency	ORPHA:93941
Double Outlet Left Ventricle	Abnormal coronary artery course, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arterio...	ORPHA:3427
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,...	ORPHA:3342
Craniofaciofrontodigital Syndrome	Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Dyspnea, Congest...	ORPHA:363705
Bloom Syndrome	Skin rash, Pneumonia, Bronchitis, Small for gestational age, Respiratory tract infection, Chronic...	ORPHA:125
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Sarcoidosis	Heart block, Abnormal lung morphology, Ventricular tachycardia, Uveitis, Tubulointerstitial nephr...	ORPHA:797
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Monorchism, Bilateral lung agenesis, Pulmonary hypoplasia, Fail...	ORPHA:2753
Huntington Disease-Like 2	Weight loss	OMIM:606438
Eosinophilic Gastroenteritis	Allergic rhinitis, Asthma, Atopic dermatitis, Weight loss, Hematochezia	ORPHA:2070
Riboflavin Transporter Deficiency	Hypertension, Cachexia, Respiratory insufficiency	ORPHA:97229
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Large for gestational age, Cryptorchidism, Pulmonary artery stenosis, Abnormal aort...	ORPHA:96334
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis	ORPHA:298
Mckusick-Kaufman Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:236700
Smith-Lemli-Opitz Syndrome	Cryptorchidism, Patent ductus arteriosus, Abnormality of the gallbladder, Abnormal lung lobation,...	ORPHA:818
Graves Disease, Susceptibility To, 1	Congestive heart failure, Weight loss, Goiter	OMIM:275000
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Ascending tubular aorta aneurysm, Vascular tortuosity, Emphysem...	OMIM:219100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins...	ORPHA:98914
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C...	ORPHA:79303
Loeys-Dietz Syndrome 4	Eosinophilic infiltration of the esophagus, Arterial tortuosity, Pneumothorax, Ascending tubular ...	OMIM:614816
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Prolonged...	OMIM:616271
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Bradycardia	ORPHA:226313
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Arrhythmia, Failur...	ORPHA:2135
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta	ORPHA:2876
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Pulmonary edema	ORPHA:79330
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Atrial fibrill...	ORPHA:273
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100075
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure	ORPHA:75233
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Stillbirth, Small for gestational age, Pulmonary hypoplasia	OMIM:208150
Acrorenal-Mandibular Syndrome	Absent nipple, Pulmonary hypoplasia	OMIM:200980
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Neonatal respiratory distress, Patent ductus arteriosus, Coarctation of aorta, Supravalvar pulmon...	OMIM:618164
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Hypersplenism, Hepatos...	ORPHA:98850
Dyskeratosis Congenita, Autosomal Dominant 1	Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Budd-Chiari syndrome, Pulmonary fibrosis, Ci...	OMIM:127550
Cap Polyposis	Hematochezia, Atrophic gastritis, Weight loss	ORPHA:160148
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Raynaud phenomenon, Restrictive ventilatory defect, ...	OMIM:607944
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Prolonged prothrom...	OMIM:618329
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Hypertension, Palpita...	ORPHA:1501
Schinzel-Giedion Syndrome	Respiratory distress, Streak ovary, Failure to thrive in infancy, Recurrent pneumonia, Pulmonary ...	ORPHA:798
Familial Chylomicronemia Syndrome	Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Jaundice, H...	ORPHA:444490
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Splenomega...	OMIM:619381
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh...	OMIM:233450
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis	OMIM:263700
Axial Mesodermal Dysplasia Spectrum	Aplasia/Hypoplasia of the lungs, Abnormality of the spleen, Abnormality of the liver	ORPHA:1834
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Weight loss, Palpitations, Goiter	OMIM:188580
Caroli Syndrome	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Liver abscess, Cholangiocarcinoma...	ORPHA:480520
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn...	ORPHA:31826
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Moynahan Syndrome	Cachexia	ORPHA:2574
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pne...	OMIM:300472
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Liposarcoma	Varicose veins, Weight loss	ORPHA:69078
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve...	ORPHA:3208
Neurofibroma	Enlargement of parotid gland, Intestinal bleeding, Neoplasia of the pleura, Recurrent otitis medi...	ORPHA:252183
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract...	OMIM:253200
Lathosterolosis	Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I...	OMIM:607330
Osteogenesis Imperfecta	Aortic regurgitation, Neonatal respiratory distress, Small for gestational age, Cerebral hemorrha...	ORPHA:666
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Patent ductus arteriosus, Biliary cirrhosis, Cholestasis, ...	OMIM:267010
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Mucolipidosis Type Ii	Aortic regurgitation, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:576
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Chilblains, Portal...	OMIM:619487
Catastrophic Antiphospholipid Syndrome	Transient ischemic attack, Angina pectoris, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Eosinophilic Fasciitis	Arthritis, Fasciitis, Weight loss, Myositis	ORPHA:3165
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Pustule, Myocarditis, Splenomegaly, Vascu...	ORPHA:50918
Moebius Syndrome	Respiratory distress	OMIM:157900
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Portal hypertension, Cachexia, Splenomegaly, Hepatosplenomegaly,...	ORPHA:824
Good Syndrome	Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, ...	ORPHA:169105
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Weight loss, Cachexia, Atherosclerosis	ORPHA:1979
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs	ORPHA:2549
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia	ORPHA:52368
Keutel Syndrome	Sinusitis, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Re...	OMIM:245150
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Minimal change glomerulonephritis, Hydr...	ORPHA:567546
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Respiratory failure, Respiratory insufficiency	OMIM:618186
Peters Plus Syndrome	Cryptorchidism, Patent ductus arteriosus, Abnormal pulmonary vein morphology, Pulmonic stenosis, ...	ORPHA:709
Focal Dermal Hypoplasia	Acute hepatic failure, Telangiectasia of the skin, Patent ductus arteriosus, Aplasia/Hypoplasia o...	ORPHA:2092
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Ar...	OMIM:301074
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P...	ORPHA:31205
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Cryptorchidism, Pulmonary artery hypoplasia	OMIM:300963
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Vacterl/Vater Association	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormality of the gallbladder, Abnormality of t...	ORPHA:887
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Acute Radiation Syndrome	Abnormal bleeding, Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis...	ORPHA:454831
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Neu-Laxova Syndrome 1	Cryptorchidism, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Transposition of the ...	OMIM:256520
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Primary testicular failure, Congestive heart failure, ...	ORPHA:85450
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Tetralog...	OMIM:600460
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation	ORPHA:3301
Osteogenesis Imperfecta, Type Vii	Absent pulmonary artery, Hypoplastic pulmonary veins	OMIM:610682
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Recurrent pharyng...	ORPHA:293978
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron...	OMIM:619991
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai...	ORPHA:90349
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Medial calcification of large arteries, Eczema, Congestive ...	ORPHA:391487
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Aminopterin/Methotrexate Embryofetopathy	Pulmonary artery atresia, Tetralogy of Fallot	ORPHA:1908
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal ...	ORPHA:90051
Rheumatoid Arthritis	Vasculitis, Rheumatoid arthritis, Weight loss	OMIM:180300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss, Goiter	OMIM:613239
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Cholera	Tachycardia, Tachypnea, Hypovolemic shock, Stroke, Aspiration pneumonia, Hypotension, Hyperventil...	ORPHA:173
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Malt Lymphoma	Recurrent respiratory infections, Posterior uveitis, Weight loss	ORPHA:52417
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Jaundice,...	ORPHA:20
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc...	ORPHA:276621
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma	ORPHA:73230
Flynn-Aird Syndrome	Cachexia, Atherosclerosis	ORPHA:2047
Restrictive Dermopathy 1	Neonatal death, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia	OMIM:275210
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ir...	ORPHA:79139
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Colchicine Poisoning	Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,...	ORPHA:71273
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Slender build, Cachexia, Congestive heart failure...	ORPHA:558
Restrictive Dermopathy	Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Ascending tubular aort...	ORPHA:1662
Infection-Related Hemolytic Uremic Syndrome	Acute colitis, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleura...	ORPHA:544482
Acute Adrenal Insufficiency	Orthostatic hypotension, Myocardial infarction, Hypovolemia, Weight loss, Stroke, Hypotension, Re...	ORPHA:95409
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Elevated circulating growth ...	ORPHA:97283
Lissencephaly Due To Lis1 Mutation	Dilation of Virchow-Robin spaces, Aspiration pneumonia	ORPHA:95232
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Skin rash, Pneumonia, ...	ORPHA:811
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Cutis Laxa, Autosomal Recessive, Type Ib	Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardi...	OMIM:614437
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia, Cryptorchidism	ORPHA:49
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflam...	ORPHA:99921
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Respir...	ORPHA:97282
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,...	OMIM:164310
Mgat2-Cdg	Respiratory distress, Abnormal bleeding, Reflex asystolic syncope, Arrhythmia, Recurrent upper an...	ORPHA:79329
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir...	OMIM:301072
Acquired Hypertrichosis Lanuginosa	Weight loss, Ovarian neoplasm	ORPHA:2221
Ulbright-Hodes Syndrome	Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmonary hypoplasia	ORPHA:3404
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Weight loss	ORPHA:103910
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Patent ductus arteriosus	OMIM:620113
Glossopharyngeal Neuralgia	Jaw claudication, Weight loss, Syncope, Bradycardia, Vascular dilatation	ORPHA:221098
Leptospirosis	Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subc...	ORPHA:509
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation	OMIM:610688
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Down Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary venous return, D...	OMIM:190685
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Beta-Ketothiolase Deficiency	Hepatomegaly, Tachypnea, Weight loss, Hypertension, Hypotension, Cough	ORPHA:134
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Peripheral Primitive Neuroectodermal Tumor	Abnormal bleeding, Neoplasm of the pancreas, Jaundice, Ovarian neoplasm, Weight loss, Pancreatitis	ORPHA:370348
Renpenning Syndrome	Decreased testicular size, Cachexia	ORPHA:3242
Multiple Myeloma	Splenomegaly, Pleural effusion, Weight loss	ORPHA:29073
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Small for gestational age, Decreased response to growth hormone...	OMIM:616835
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Rodrigues Blindness	Nasal flaring	OMIM:268320
Leukocyte Adhesion Deficiency	Abnormal bleeding, Sinusitis, Severe periodontitis, Lymphocytic interstitial pneumonia, Pneumonia...	ORPHA:2968
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Tricuspid regurgitation, Persistent fetal circulation	OMIM:612863
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Hepatic fibrosis, Neonatal death, Intrahepatic bile duct dilatatio...	OMIM:619534
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor, Hypotension	ORPHA:100050
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Abnormal heart rate variability	ORPHA:206436
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Thyroiditis, Weight loss, Prolonged prothrombin time, Recu...	OMIM:212750
Hyperlysinemia	Failure to thrive, Pulmonary artery hypoplasia, Recurrent pneumonia	ORPHA:2203
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hepatosplenomegaly	ORPHA:86884
Christianson Syndrome	Cachexia	ORPHA:85278
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Myocardial infarction	OMIM:274150
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia	ORPHA:2930
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Heart murmur, ...	ORPHA:284979
Plague	Abnormal bleeding, Respiratory distress, Tachycardia, Hepatomegaly, Chapped lip, Skin rash, Hemat...	ORPHA:707
Ménétrier Disease	Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Weight loss	ORPHA:2494
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cherry red spot of the macula, Aspiration pneumonia, Cardiomyopathy	ORPHA:79255
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Skin rash, Stomatitis, Eleva...	ORPHA:97280
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cryptorchidism, Congenital hepatic fibrosis, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:93271
Fatal Familial Insomnia	Apnea, Weight loss	OMIM:600072
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Renovascular hypertens...	ORPHA:49041
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus,...	OMIM:613610
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respir...	OMIM:602535
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulati...	ORPHA:913
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallbladder	ORPHA:309271
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneu...	ORPHA:79404
Ellis Van Creveld Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Emphysema, Failure to thrive	ORPHA:289
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Total anomalous pulmonary venous return	ORPHA:487796
Fraser Syndrome 1	Cryptorchidism, Pulmonary hypoplasia	OMIM:219000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Apnea	ORPHA:17
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac...	ORPHA:397715
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypote...	ORPHA:94093
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Arrhythmia, Infectious encephalitis	ORPHA:68
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc...	ORPHA:29072
Rett Syndrome	Apnea, Intermittent hyperventilation, Cachexia, Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Abnormal spleen physiology, ...	ORPHA:398063
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p...	OMIM:619482
Acute Monoblastic/Monocytic Leukemia	Weight loss, Exertional dyspnea	ORPHA:514
Fraser Syndrome	Cryptorchidism, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2052
Degcags Syndrome	Hepatomegaly, Tachycardia, Small for gestational age, Pneumonia, Cryptorchidism, Asthma, Patent d...	OMIM:619488
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Lynch Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adeno...	ORPHA:144
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Orthostatic hypotension, Pituitary adenoma, Adrenocorticotropic hormone defic...	ORPHA:199299
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Cachexia	ORPHA:1133
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Cardiomyopathy, Asp...	ORPHA:2131
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertension	ORPHA:1555
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he...	ORPHA:805
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Congenital pulmonary airway malform...	ORPHA:436252
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, Respirato...	ORPHA:646
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Prolonged prothrombin time, Petechiae, Purpura	ORPHA:2330
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adeno...	ORPHA:440437
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Hepatosplenom...	ORPHA:85408
Castleman Disease	Dyspnea, Jaundice, Weight loss, Cough, Restrictive cardiomyopathy	ORPHA:160
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:185000
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Supernumerary nipple, Cryptorchidism, Patent ductus ...	OMIM:312870
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary ...	ORPHA:79282
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Cryptorchidism, Pate...	ORPHA:353281
Trichorhinophalangeal Syndrome, Type Ii	Recurrent respiratory infections, Chronic gastritis, Internal carotid artery dissection, Cerebral...	OMIM:150230
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Respiratory tract infection, Splenomegaly, Atri...	ORPHA:581
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hepat...	ORPHA:79259
Tay-Sachs Disease	Cherry red spot of the macula, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Failure to t...	OMIM:203700
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections	ORPHA:177907
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Osteosarcoma	Weight loss	ORPHA:668
Robinow Syndrome, Autosomal Dominant 3	Pulmonary artery atresia, Cryptorchidism, Patent ductus arteriosus, Tricuspid regurgitation	OMIM:616894
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Angular cheilitis, Weight loss, Failure to thrive	ORPHA:35858
Holoprosencephaly	Failure to thrive in infancy, Cryptorchidism, Abnormality of the spleen, Panhypopituitarism, Resp...	ORPHA:2162
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Cachexia, Recurrent pneumon...	ORPHA:647
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, H...	ORPHA:109
Familial Glucocorticoid Deficiency	Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Hypotension, Leydig cell neoplasia, H...	ORPHA:361
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Cryptorchidism, Total anomalous pulmonary venous return	OMIM:609945
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Congestive heart failure, Asthma, Patent d...	ORPHA:444077
Opitz Gbbb Syndrome	Enlarged ovaries, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Stridor, Aortic...	ORPHA:2745
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Congestive heart failure, Death in infancy	OMIM:617156
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Pneumonia, Hepatosplenomegaly, Mitral regurgitation, Otitis media	ORPHA:309282
Coffin-Siris Syndrome	Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Aspiratio...	ORPHA:1465
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Cryptorchidism, Abnormality of the gallbladder, Aplasia/Hypopla...	ORPHA:280
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Fucosidosis	Hepatomegaly, Failure to thrive, Abnormality of the gallbladder	ORPHA:349
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent upper respiratory tract infections	ORPHA:404448
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Hydrocele testis, Aortic root aneurysm, Blepharitis, Pulmonary arterial...	ORPHA:280633
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o...	ORPHA:733
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Arteria lusoria, Arthritis, Chronic oral ...	ORPHA:221139
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Failure to thrive, Recurrent aspiration pneumonia	OMIM:247200
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist...	ORPHA:255210
Tetrasomy 12P	Cachexia	ORPHA:884
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int...	ORPHA:394
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypertension	OMIM:123790
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf...	OMIM:114290
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism	ORPHA:3376
Peters-Plus Syndrome	Bilobate gallbladder, Cryptorchidism, Patent ductus arteriosus, Biliary tract abnormality, Pulmon...	OMIM:261540
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lusoria, Left a...	OMIM:212093
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta...	ORPHA:90348
Cornelia De Lange Syndrome 1	Cryptorchidism, Hypoplastic nipples, Pneumonia, Otitis media	OMIM:122470
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Weight loss, Testicular te...	ORPHA:764
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone...	OMIM:619525
Neuroblastoma, Susceptibility To, 1	Hypertension, Failure to thrive, Weight loss	OMIM:256700
Genitopatellar Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:606170
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Hyperparathyroidism, Atelectasis, Cryptorchidism, Cheilitis, Re...	ORPHA:534
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Splenomegaly, Weight loss, Syncope, Hypotension	ORPHA:98849
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Failure to thrive, Pulmonary artery sling, Asplenia, Cryptorchidism, Patent ductus arteriosus, Hy...	ORPHA:261552
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Elevated hepatic transa...	ORPHA:95455
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Raynaud phenomenon, Carotid arter...	ORPHA:740
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ...	OMIM:261515
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Failure to thrive, Pulmonary artery sling, Asplenia, Cryptorchidism, Tetralogy of Fallot, Coarcta...	ORPHA:261537
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia	ORPHA:424
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Myocardial infarction, Pituitary corticotro...	ORPHA:99889
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Patent ductus arteriosus, Pulmonic stenosis	OMIM:614609
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypertrophic cardiomyopathy	OMIM:613673
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Partial anomalous pulmonary venous return	OMIM:301044
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Cryptorchidism, Pate...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Cryptorchidism, Pate...	ORPHA:353277
Chand Syndrome	Atelectasis	ORPHA:1401
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size	ORPHA:813
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Pulmonic s...	OMIM:616268
Pallister-Killian Syndrome	Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Obesity, Coarctation of aorta, Hy...	OMIM:601803
Gitelman Syndrome	Respiratory distress, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Sy...	ORPHA:358
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Mildly reduced left ventricular ejecti...	ORPHA:99094
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart rate variabi...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart rate variabi...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart rate variabi...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Abnormal heart rate variabi...	ORPHA:220386
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Weight loss	ORPHA:3337
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Emphysema, Pneumothorax,...	OMIM:154700
Fanconi Anemia	Cryptorchidism, Patent ductus arteriosus, Weight loss, Abnormality of the liver, Abnormal carotid...	ORPHA:84
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti...	ORPHA:79102
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Cachexia	OMIM:175500
Juvenile Polyposis Of Infancy	Abnormal bleeding, Gastrointestinal hemorrhage, Cachexia, Patent ductus arteriosus, Hematochezia,...	ORPHA:79076
Short Syndrome	Weight loss	ORPHA:3163
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mitral regurgitation, Dilated cardiomyopathy, Respiratory insufficiency, Weight loss	OMIM:607459
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Pancreatoblastoma	Jaundice, Pancreatic calcification, Weight loss	ORPHA:677
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Skin rash, Cachexia	ORPHA:220295
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:97286
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Aspiration pneumonia	ORPHA:99027
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Hypertension, Failure to thrive, Cachexia	OMIM:610965
Genitopalatocardiac Syndrome	Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder	ORPHA:2075
Craniofacial Microsomia 1	Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Pulmonary hypoplasia, Tetralog...	OMIM:164210
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Supraventricular arrhythmia, Elevated circulating growth hormone concen...	ORPHA:91347
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Mitral regurgitat...	ORPHA:2556
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Weight loss, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells	ORPHA:99885
Familial Gestational Hyperthyroidism	Goiter, Weight loss, Thyroid hyperplasia	ORPHA:99819
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Emphysema, Arterial tortuosit...	OMIM:619472
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis...	ORPHA:143
Multiple Osteochondromas	Pseudoaneurysm, Arthritis, Pneumothorax, Hemothorax	ORPHA:321
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Cachexia, Obesity	ORPHA:85293
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen...	ORPHA:652
Proteus Syndrome	Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Testicular neoplasm, Splenomegaly, ...	ORPHA:744
Rubinstein-Taybi Syndrome 1	Respiratory tract infection, Recurrent upper respiratory tract infections, Respiratory distress	OMIM:180849
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Schwartz-Jampel Syndrome	Apnea, Cachexia, Respiratory insufficiency, Testicular torsion, Decreased body weight, Pulmonary ...	ORPHA:800
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargeme...	ORPHA:79078
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Abnormal lung lobation, Respiratory distress	ORPHA:508488
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic insufficiency	ORPHA:309031
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Recurrent respiratory infections, Small for gestational age, Pneumonia, Cr...	OMIM:264090
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Keratitis, Myocarditis, Congestive heart failure, Jaund...	ORPHA:3385
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Patent ductus arteriosus, Anomal...	ORPHA:438213
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Addison Disease	Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Weight loss, Hypotension...	ORPHA:85138
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia	ORPHA:501
Stickler Syndrome	Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Arrhyt...	ORPHA:828
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cryptorchidism, Splenomegaly, Retinal hemo...	ORPHA:191
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Microphthalmia, Syndromic 1	Recurrent otitis media, Cryptorchidism, Pulmonary hypoplasia	OMIM:309800
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Aplasia of the sweat glands, Syncope, Septic arthritis, Bruising suscep...	ORPHA:642
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Acne, Hypovolemia, Testicular adrenal rest tumor, Weight loss, Hypotension, Hypocapnia, Fa...	ORPHA:90794
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Weight loss, Sclerit...	ORPHA:91500
Generalized Arterial Calcification Of Infancy	Respiratory distress, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Le...	ORPHA:51608
Charge Syndrome	Hypoparathyroidism, Overriding aorta, Decreased response to growth hormone stimulation test, Cryp...	OMIM:214800
Trisomy 18	Cryptorchidism, Cachexia	ORPHA:3380
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff...	OMIM:219800
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Dilate...	ORPHA:2388
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Hypertrophic cardiomyopathy, Slender build	ORPHA:1328
Yunis-Varon Syndrome	Absent nipple, Small for gestational age, Failure to thrive in infancy, Cryptorchidism, Heart mur...	OMIM:216340
Kabuki Syndrome 1	Recurrent otitis media, Cryptorchidism, Recurrent aspiration pneumonia, Coarctation of aorta	OMIM:147920
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Angina pectoris, Elevated circ...	ORPHA:79318
Seckel Syndrome	Cachexia	ORPHA:808
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Alström Syndrome	Respiratory distress, Portal hypertension, Congestive heart failure, Recurrent upper respiratory ...	ORPHA:64
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Norrie Disease	Venous insufficiency, Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649

Histopathology

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

There is no histopathology data for Foxf1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Foxf1.

No publications found that use IMPC mice or data for Foxf1.

Order Mouse and ES Cells

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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