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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 (1331 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		Aortic valve stenosis, Annular pancreas, Tetralogy of Fallot, Absent gallbladder, Pulmonary arter...	ORPHA:210122
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins		Interrupted aortic arch, Pulmonary artery dilatation, Annular pancreas, Right-to-left shunt, Abno...	OMIM:265380

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

Disease	Matching phenotypes	Source
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev...	OMIM:265450
Pulmonary Blastoma	Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma	ORPHA:64741
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion	OMIM:234810
Nphp3-Related Meckel-Like Syndrome	Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancr...	ORPHA:3032
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Cystic liver disease, Bilobed right lung, Bi...	OMIM:612284
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Bronchitis	ORPHA:930
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy	OMIM:254120
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Immunodeficiency 51	Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc...	OMIM:613953
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula...	OMIM:614096
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis, Cili...	OMIM:615294
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to thrive secondary ...	OMIM:608971
Pleural Mesothelioma	Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal cardiovascular system...	ORPHA:50251
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Pulmonary hypoplasia	OMIM:619003
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:1208
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia	ORPHA:141152
Pentalogy Of Cantrell	Tetralogy of Fallot, Absent gallbladder, Polysplenia, Pulmonary hypoplasia	ORPHA:1335
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia	OMIM:265150
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ...	OMIM:615415
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of right pulmonary artery from...	ORPHA:99050
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Myocardial infarction, Cachexia, Acute infectious pneumon...	ORPHA:60033
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai...	OMIM:265120
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Exertiona...	OMIM:178500
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia	OMIM:245650
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Pulmonary hypoplasia	OMIM:615524
Allergic Bronchopulmonary Aspergillosis	Emphysema, Pulmonary arterial hypertension, Weight loss, Bronchiectasis	ORPHA:1164
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation	ORPHA:1705
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:2631
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Heart Defects-Limb Shortening Syndrome	Abnormality of the pulmonary artery	ORPHA:1354
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormality of the pul...	ORPHA:90308
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media	OMIM:300455
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea	OMIM:267450
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis, Ciliary dyskinesia	OMIM:615872
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Left superior vena cava drain...	ORPHA:185
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, ...	ORPHA:70589
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Hypovolemic shock, Failure to thrive in infancy, Osteomyelitis...	ORPHA:171876
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Failure to thrive, Abnormal coronary ar...	ORPHA:860
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia	OMIM:178370
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho...	OMIM:613490
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Pancreatic hypoplasia, Failure to thrive, Tetralogy of Fallot, Absent ga...	OMIM:600001
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation...	ORPHA:30391
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Hepatomegaly, Recurrent respir...	OMIM:269840
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Res...	OMIM:615504
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i...	OMIM:106700
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Small for gestational age, Pulmonary hypoplasia	OMIM:616733
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph...	OMIM:263000
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Respiratory distress, Neonatal death, Death in adolescence, Pulmonary a...	OMIM:619751
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e...	ORPHA:199241
Fadd-Related Immunodeficiency	Hepatic fibrosis, Pulmonary artery atresia, Decreased liver function	ORPHA:306550
Primary Ciliary Dyskinesia	Atelectasis, Polysplenia, Recurrent otitis media, Abnormal inferior vena cava morphology, Pulmona...	ORPHA:244
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary arterial hypertension, Erythem...	OMIM:612387
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Abnormal aortic morphology, Cryptorchidism, Abnormality of the pulmonary artery	ORPHA:1166
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections	OMIM:618806
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Annular pancreas, Tetralogy of Fallot, Absent gallbladder, Pulmonary arter...	ORPHA:210122
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a...	OMIM:613854
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p...	OMIM:178600
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Tetralogy of Fallot, Neonatal death, Absent gallbladder, Pulmonary hypoplasia	OMIM:617925
Gaucher Disease Type 2	Respiratory distress, Cardiac arrest, Recurrent respiratory infections, Abnormal pattern of respi...	ORPHA:77260
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Congenital Rubella Syndrome	Skin rash, Splenomegaly, Abnormality of the pulmonary artery, Hepatomegaly, Jaundice, Patent duct...	ORPHA:290
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Bronchiectasis, Ciliary dyskinesia	OMIM:619436
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Hepatic failure, Emphysema, Portal hypertension, Cerebral berry aneurysm, Cirrhosis	OMIM:210050
Microlissencephaly	Pneumonia	ORPHA:1083
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen...	ORPHA:79127
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Biliary atresia, Acholi...	OMIM:615710
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:616867
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho...	OMIM:208540
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery	ORPHA:1203
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vascu...	OMIM:620321
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Respiratory insufficie...	OMIM:615505
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Abnormality of the pulmonary artery	ORPHA:1065
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi...	ORPHA:922
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Abnormal testis morphology	ORPHA:1548
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin...	OMIM:616414
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce...	OMIM:613642
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Immotile cilia, Chronic bronchitis, Rec...	OMIM:615482
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Bacterial endocarditis, Atrial flutter, Tetralogy of Fallot, Transient isc...	ORPHA:1330
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Anterior pituitary agenesis, Pancreatic hypoplasia, Failure to thrive, E...	ORPHA:2255
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death	OMIM:601612
Ciliary Dyskinesia, Primary, 11	Immotile cilia, Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory ...	OMIM:612649
Slc35A1-Cdg	Pneumonia, Abnormal bleeding, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage...	ORPHA:238459
Waardenburg Syndrome Type 2	Abnormality of the pulmonary artery	ORPHA:895
Atrial Septal Defect 8	Anomalous pulmonary venous return	OMIM:614433
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr...	ORPHA:60032
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Immotile cilia, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Respir...	OMIM:615500
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Ci...	OMIM:608644
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Bronchitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice...	ORPHA:60
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Activated Pi3K-Delta Syndrome	Pneumonia, Failure to thrive, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis,...	ORPHA:397596
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Failure to thrive, Pneumothorax, Recurrent respiratory infe...	ORPHA:2257
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia, Dextrotranspo...	OMIM:613751
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ...	OMIM:601457
Gaucher Disease Type 1	Splenic infarction, Gingival bleeding, Cholelithiasis, Hepatic failure, Abnormal bleeding, Bruisi...	ORPHA:77259
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Increased inflammatory respons...	ORPHA:3325
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis w...	OMIM:211600
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro...	OMIM:613021
Matthew-Wood Syndrome	Annular pancreas, Failure to thrive, Cryptorchidism, Abnormal spleen morphology, Abnormal lung mo...	ORPHA:2470
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Pleural effusion, Pulmon...	ORPHA:2414
Zttk Syndrome	Aortic regurgitation, Failure to thrive, Absent gallbladder, Unilateral lung agenesis, Patent duc...	OMIM:617140
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Arthritis, Recurrent pharyngitis, Hepatomegaly	ORPHA:42642
Truncus Arteriosus	Abnormal coronary artery morphology, Pulmonary edema, Single coronary artery origin, Tachycardia,...	ORPHA:3384
Mhc Class I Deficiency 1	Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie...	OMIM:604571
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration, Parathyroid adenoma	ORPHA:122
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Cardiac arrest...	ORPHA:70587
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Tetralogy of Fallot, Cryptorchidism, Double outlet right ventricle, Mesenteric cyst, Pulmonary ar...	OMIM:618316
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Hepatomeg...	OMIM:300400
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Pulmonary insuffi...	OMIM:614017
Rigid Spine Syndrome	Pneumonia, Cardiac conduction abnormality	ORPHA:97244
Trisomy 8P	Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, Annular pancr...	ORPHA:264450
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Hepatosplenomegaly, Bronchiectasis	OMIM:619126
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Absent gallbladder, Cryptorchidism, Glue ear, Biliary atres...	ORPHA:3310
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Tricuspid regurgitation, Coarctation of aorta, Aplasia/Hypoplasia of the ...	ORPHA:1120
Polyarteritis Nodosa	Cardiomyopathy, Hypertension, Weight loss, Raynaud phenomenon, Abnormal lung morphology, Pleuriti...	ORPHA:767
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa...	ORPHA:95430
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Agenesis of pulmonary vessels, Multilobulated sple...	OMIM:601186
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Abnormal...	ORPHA:178320
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Meacham Syndrome	Accessory spleen, Tetralogy of Fallot, Congenital alveolar dysplasia, Scimitar anomaly, Right aor...	OMIM:608978
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Pulmo...	ORPHA:133
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Right aortic arch with mirror image branching	OMIM:606217
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Immotile cilia, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis, Ci...	OMIM:615481
Absence Of The Pulmonary Artery	Recurrent pneumonia, Atrial flutter, Abnormal coronary artery morphology, Congestive heart failur...	ORPHA:980
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Pulmonary arterial hyperte...	ORPHA:70588
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return	ORPHA:2184
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Immotile cilia, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Respir...	OMIM:614935
Follicular Lymphoma	Weight loss, Pleural effusion, Splenomegaly, Abnormal peritoneum morphology	ORPHA:545
Combined Immunodeficiency, X-Linked	Pneumonia, Sinusitis, Recurrent bronchitis, Otitis media	OMIM:312863
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation...	ORPHA:99104
Dextrocardia	Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobation, Abnormal EKG, Abno...	ORPHA:1666
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Absent gallbladder, Cryptorchidism, Heart murmur, Intracranial hemorrhag...	ORPHA:163979
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan...	ORPHA:774
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis	OMIM:247800
Tetraamelia Syndrome 2	Bilateral lung agenesis, Absent nipple, Hypoplastic pulmonary veins	OMIM:618021
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Subpleural interstitial thickenin...	ORPHA:79128
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Caspase 8 Deficiency	Pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary infect...	OMIM:607271
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis...	OMIM:607594
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Double outlet right ventric...	OMIM:618254
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Aortic valve stenosis, Abnormal aortic arch morphology, Conot...	ORPHA:2306
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Emphysema, Pyoderma, Hepatosplenom...	OMIM:242700
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusi...	OMIM:615067
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis	OMIM:211400
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusi...	OMIM:615207
Pericardial And Diaphragmatic Defect	Tetralogy of Fallot, Palpitations, Mitral stenosis, Pulmonary sequestration, Patent ductus arteri...	ORPHA:2847
Atelosteogenesis, Type Ii	Stillbirth, Pulmonary hypoplasia	OMIM:256050
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Skin rash, Venous insufficiency, Weight loss...	ORPHA:33276
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice	ORPHA:464370
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism, Miscarriage	ORPHA:82
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal...	OMIM:263200
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Tachycardia	ORPHA:264675
Craniofacioskeletal Syndrome	Interrupted aortic arch, Patent ductus arteriosus, Absent gallbladder, Cryptorchidism	OMIM:300712
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Nephroblastoma	Neoplasm of the liver, Weight loss, Hypertension, Neoplasm of the lung	ORPHA:654
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Bronchiectasis...	OMIM:613193
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Pulmonary hypoplasia, Abnormal lung lobation	OMIM:263210
Felty Syndrome	Recurrent pneumonia, Episcleritis, Splenomegaly, Synovitis, Sinusitis, Rhinitis, Weight loss, Art...	ORPHA:47612
Achondrogenesis Type 2	Pulmonary hypoplasia	ORPHA:93296
Alpha-Thalassemia	Cholelithiasis, Congestive heart failure, Hepatosplenomegaly, Hypersplenism, Pleural effusion, Sp...	ORPHA:846
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Immotile cilia, Chronic sinusitis, Chronic rhinitis, Recurrent respirator...	OMIM:616481
Alg3-Cdg	Cardiomyopathy, Coarctation of the descending aortic arch, Decreased liver function, Pulmonary hy...	ORPHA:79321
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Bronchiectasis	OMIM:617638
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Emphysema, Aortic atherosc...	ORPHA:363618
Pallister-Hall-Like Syndrome	Anterior hypopituitarism, Pulmonary hypoplasia	OMIM:241800
Tonne-Kalscheuer Syndrome	Decreased testicular size, Cryptorchidism, Pulmonary hypoplasia	OMIM:300978
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Eczematoid dermatitis, Decreased liver function	ORPHA:79278
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Neonatal death, Elevated circulating alani...	OMIM:618500
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis	ORPHA:411703
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Aortic atherosclerotic lesion, Obesity, Hepatic ...	ORPHA:209902
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Abnormal c...	OMIM:613807
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Reticular Dysgenesis	Failure to thrive, Skin rash, Weight loss, Recurrent respiratory infections, Chronic otitis media	ORPHA:33355
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Cryptorchidism, Abnormality of the pulmonary art...	ORPHA:1926
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Recurrent upper respiratory tract infections, Cholelithiasis, Failure to thrive, Decreased testic...	OMIM:300534
Kagami-Ogata Syndrome	Splenomegaly, Pulmonary arterial hypertension, Hepatomegaly, Patent ductus arteriosus, Pulmonic s...	OMIM:608149
Diamond-Blackfan Anemia 20	Total anomalous pulmonary venous return	OMIM:618313
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Pulmon...	OMIM:611812
Meacham Syndrome	Aortic valve stenosis, Abnormal lung lobation, Tetralogy of Fallot, Abnormality of the spleen, Co...	ORPHA:3097
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Failure to thrive in infancy, Transient ischemic attack, Ischemic stroke, Absent gallb...	ORPHA:500150
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnorma...	ORPHA:229717
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increas...	ORPHA:97261
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Aspiration pneumonia	OMIM:619057
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis, Abnormal ciliary motility, Bronchi...	OMIM:611884
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Chronic otitis me...	ORPHA:1572
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration	OMIM:300752
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea, Acute infectious pneumonia	ORPHA:140896
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi...	OMIM:615139
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Small for gestational age, Pancreatic aplasia	ORPHA:556955
Renal Tubular Dysgenesis	Hypotension, Pulmonary hypoplasia	OMIM:267430
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function	OMIM:614156
Immunodeficiency 32B	Pneumonia, Failure to thrive, Splenomegaly, Sinusitis, Hepatomegaly, Recurrent respiratory infect...	OMIM:226990
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ...	OMIM:620296
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Stillbirth, Pulmonary hypoplasia	OMIM:236500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Cholestasis, Recurren...	OMIM:620233
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Respiratory distress, Shock, Pleural effusion, Tachypnea, Pneumothorax, A...	ORPHA:36238
Yellow Nail Syndrome	Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Rhinitis, Pulmonary arterial hypertensio...	ORPHA:662
Tricuspid Atresia	Pulmonary artery atresia, Coarctation of aorta, Transposition of the great arteries, Persistent l...	ORPHA:1209
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Cryptorchidism	ORPHA:96097
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, El...	ORPHA:400
Thanatophoric Dysplasia	Patent ductus arteriosus, Pulmonary hypoplasia	ORPHA:2655
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Splenomegaly	OMIM:224100
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Immotile cilia, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Respir...	OMIM:615444
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs	ORPHA:3346
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Melioidosis	Pneumonia, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess, Abnormality of the spleen...	ORPHA:31202
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Eczematoid dermatitis, Hepatic failure	OMIM:177000
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal...	OMIM:601346
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Polysplenia, Abnorma...	OMIM:208530
Serkal Syndrome	Pulmonic stenosis, Pulmonary hypoplasia	ORPHA:139466
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Recurrent cutaneous ...	ORPHA:47
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Pulmonary insufficiency, Hypertension, Pulmonary hypoplasia	OMIM:602088
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Weight loss, Abnormal testis morphology,...	ORPHA:54251
Immunodeficiency 27A	Pneumonia, Hepatosplenomegaly, Splenomegaly, Increased inflammatory response, Salmonella osteomye...	OMIM:209950
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Pulmonary arterial hypertensi...	OMIM:601005
Tetrasomy 5P	Failure to thrive, Congestive heart failure, Pulmonary arterial hypertension, Heart murmur, Recur...	ORPHA:3309
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Ciliary Dyskinesia, Primary, 34	Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Recurrent sinusitis, Chronic...	OMIM:617091
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Respiratory insufficiency due to d...	OMIM:616037
Asbestos Intoxication	Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ...	ORPHA:2302
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis	OMIM:266265
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomegaly, Ovarian...	ORPHA:83469
Mantle Cell Lymphoma	Weight loss, Splenomegaly	ORPHA:52416
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary insu...	ORPHA:2032
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice, Pulmonary...	OMIM:231680
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Cryptorchidism, Pulmonary hypoplasia	OMIM:224410
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Tricuspid ...	ORPHA:97287
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right...	OMIM:610655
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res...	OMIM:613808
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy, Pulmonary hypoplasia	OMIM:616866
Renal Hypodysplasia/Aplasia 1	Hypertension, Pulmonary hypoplasia	OMIM:191830
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Weight loss...	OMIM:617321
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Stroke...	ORPHA:1163
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Chronic ot...	OMIM:612650
Familial Isolated Restrictive Cardiomyopathy	Atrial fibrillation, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid r...	ORPHA:75249
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly	ORPHA:848
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Bruising susceptibility, Recurrent respiratory infections, Splenomegaly,...	ORPHA:3226
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Decreas...	OMIM:614886
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs, Cryptorchidism	ORPHA:1027
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Right bundle branch block, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice	OMIM:613470
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
8P Inverted Duplication/Deletion Syndrome	Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96092
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:79301
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:1046
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Nodular goiter, Neoplasm of ...	ORPHA:1332
Supravalvular Aortic Stenosis	Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic stenosis, Pulmonic ...	OMIM:185500
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility	OMIM:262850
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Pleural effusion, Small for gestational age, Pulmonary hypoplasia	OMIM:616897
Holt-Oram Syndrome	Atrioventricular block, Paroxysmal atrial fibrillation, Abnormal aortic morphology, First degree ...	ORPHA:392
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Pleural effusion, Weight loss, Hypersensitivity pneumonitis	ORPHA:2902
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Elevated pulmonary artery pressure	OMIM:178400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis	OMIM:615513
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hypertrophic cardiomyopathy, Weight loss, Hepatomegaly, Recurrent respiratory ...	ORPHA:1842
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Persistent left superior vena cava, Transposition of the great arteries, Pulmonar...	OMIM:314390
Heterotaxy, Visceral, 6, Autosomal	Total anomalous pulmonary venous return, Abdominal situs inversus, Right aortic arch, Transpositi...	OMIM:614779
Nipah Virus Disease	Respiratory distress, Hypotension, Recurrent pharyngitis	ORPHA:99825
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemotho...	ORPHA:2038
X-Linked Mandibulofacial Dysostosis	Pulmonic stenosis, Cryptorchidism, Abnormality of the pulmonary artery	ORPHA:1131
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus	OMIM:614432
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Pulmonary hypoplasia	ORPHA:250999
Oligomeganephronia	Hypertension, Small for gestational age, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Pyelonephritis, Peritonitis, Thoracic aortic aneurysm, Elevated pulmonary ar...	OMIM:619351
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Interrupted aortic arch, Pulmonary artery dilatation, Annular pancreas, Right-to-left shunt, Abno...	OMIM:265380
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Weight loss, Acute infectio...	ORPHA:723
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Cryptorchi...	OMIM:620025
Tempi Syndrome	Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Telangiectasia, Transudative p...	ORPHA:284227
Gaucher Disease, Perinatal Lethal	Hepatic failure, Hepatosplenomegaly, Splenomegaly, Petechiae, Decreased body weight, Neonatal dea...	OMIM:608013
Trisomy 10P	Absent gallbladder, Small for gestational age	ORPHA:171929
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, Recurrent respiratory in...	ORPHA:217390
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Arterial stenosis, Cerebral ischemi...	ORPHA:3287
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Pulmonary insufficiency, Bile duct proliferation, Pancreatic fibrosi...	OMIM:208500
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder	ORPHA:3186
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat...	OMIM:115197
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Hepatic arteriovenous malformat...	OMIM:175050
Fetal Akinesia Deformation Sequence	Cryptorchidism, Pulmonary hypoplasia	ORPHA:994
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia	ORPHA:596
Succinic Acidemia	Respiratory distress	OMIM:600335
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration	OMIM:620011
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, H...	ORPHA:169160
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Spontaneous pneumothorax, Recurrent pneumonia, Periportal fibrosis, Gastrointes...	ORPHA:731
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Stomatitis	OMIM:618307
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent lower respiratory tract infections, Recurrent otitis media, B...	OMIM:619220
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg...	ORPHA:231222
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate...	OMIM:616433
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar...	ORPHA:449280
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre...	OMIM:618780
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Persistent fetal circulation, Persistent left superi...	OMIM:618775
Jeune Syndrome	Abnormality of the liver, Aplasia/Hypoplasia of the lungs	ORPHA:474
Perching Syndrome	Respiratory distress	OMIM:617055
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Palpitations,...	ORPHA:100085
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f...	OMIM:160900
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas...	ORPHA:90003
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, C...	OMIM:600376
Systemic Capillary Leak Syndrome	Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Weight loss, Pancreatitis, Myocarditi...	ORPHA:188
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti...	OMIM:617092
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr...	OMIM:615518
Chitayat Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Anomalous pulmonary venous return, Dextrotransposition of the great art...	OMIM:619657
Q Fever	Hepatosplenomegaly, Weight loss, Hepatomegaly, Purpura, Endocarditis, Vasculitis, Abnormal vascul...	ORPHA:781
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Severel...	OMIM:620646
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid...	OMIM:613834
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Bronchiectasis, Decreased body weight	ORPHA:477814
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea	ORPHA:1832
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent otitis media, Splenomegaly, Lymphocytic interstitial pneumonia, Hepa...	OMIM:618495
Ciliary Dyskinesia, Primary, 38	Bronchiectasis, Immotile cilia, Chronic sinusitis, Rhinitis, Chronic otitis media	OMIM:618063
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Extrapulmonary lobar sequestrat...	OMIM:200995
Seizures, Cortical Blindness, And Microcephaly Syndrome	Bronchiectasis	OMIM:616632
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Hepatosplenomegaly, Bronchiectasis, Herpes simplex encephalitis	OMIM:618982
Agnathia-Otocephaly Complex	Pulmonary hypoplasia	OMIM:202650
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Tachycardia, Pancreatiti...	ORPHA:521219
Hadziselimovic Syndrome	Tetralogy of Fallot, Pulmonary artery atresia, Failure to thrive	OMIM:612946
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Splenomeg...	OMIM:240500
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the lungs, Cryptorch...	ORPHA:1263
Distal Triplication 15Q	Large for gestational age, Hypoplastic aortic arch, Hydrocele testis, Patent ductus arteriosus, P...	ORPHA:314588
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:617895
Thanatophoric Dysplasia, Type I	Neonatal death, Pulmonary hypoplasia	OMIM:187600
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ...	ORPHA:436159
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia	OMIM:312150
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy	OMIM:300580
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Splenomegaly, Recurrent bronchitis, Recurrent sinusitis, Recurrent respir...	OMIM:300853
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis	OMIM:617992
Prune Belly Syndrome	Failure to thrive, Tetralogy of Fallot, Decreased testicular size, Cryptorchidism, Aplasia/Hypopl...	ORPHA:2970
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplasia	OMIM:145420
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Hepatomegaly, Small for gestational age, Anomalous pulmonary venous retu...	ORPHA:555874
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis	ORPHA:70578
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Retinal hemorrhage, Localized pulmonary hem...	OMIM:608710
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Respiratory infe...	ORPHA:96179
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis, Splenomegaly	OMIM:620282
Diffuse Alveolar Hemorrhage	Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Pulmonary venous hypertension,...	ORPHA:90060
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis	OMIM:235700
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Anaplastic Thyroid Carcinoma	Nodular goiter, Weight loss, Neoplasm of the lung, Goiter	ORPHA:142
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Factor V Excess With Spontaneous Thrombosis	Peripheral arterial stenosis, Pulmonary embolism	OMIM:134400
Caudal Regression Syndrome	Hypertension, Cryptorchidism, Pulmonary hypoplasia	ORPHA:3027
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Ciliary dyskinesia	OMIM:620197
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, Fa...	OMIM:613812
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Po...	OMIM:616749
Ciliary Dyskinesia, Primary, 2	Immotile cilia, Otitis media, Sinusitis, Recurrent respiratory infections, Bronchiectasis, Ciliar...	OMIM:606763
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Pulmonary arterial hypertension, Cholelithiasis, Left superior vena cava dra...	ORPHA:464738
Autosomal Agammaglobulinemia	Chronic otitis media, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Sinusiti...	ORPHA:33110
Tularemia	Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Erythema nodosum, Inflam...	ORPHA:3392
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Pagod Syndrome	Pulmonary artery hypoplasia, Abnormality of the spleen, Abnormal aortic morphology, Abnormality o...	ORPHA:991
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,...	OMIM:616576
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pleura morphology, Tr...	ORPHA:183
Double Outlet Right Ventricle	Failure to thrive, Tetralogy of Fallot, Heart murmur, Truncus arteriosus, Coarctation of aorta, D...	ORPHA:3426
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia	ORPHA:171430
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Atelectasis, Tricuspid regurgitation, Retinal arterial tortuosity,...	OMIM:620371
Sialuria	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Prol...	ORPHA:3166
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Gastrointestinal hemorrhage, Weight loss	ORPHA:2198
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Failure to thrive, Skin rash, Gastritis, Perianal abscess, R...	OMIM:618108
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess	OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation	OMIM:614370
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita...	ORPHA:99125
Amoebiasis Due To Entamoeba Histolytica	Elevated circulating hepatic transaminase concentration, Congestive heart failure, Pleural effusi...	ORPHA:67
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice	OMIM:266200
Cardiac Diverticulum	Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Ventricular fibrillation, P...	ORPHA:1686
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Tachypnea, Recurrent respira...	OMIM:610978
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:253290
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Failure to thrive, Chronic bronchitis, Sinusitis, Bronchiectasis	OMIM:242860
14Q24.1Q24.3 Microdeletion Syndrome	Pulmonary artery atresia, Cryptorchidism, Truncus arteriosus	ORPHA:401935
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bruising susceptibility, Descending aortic dissection, Ascending aortic dissection, Osteoarthriti...	OMIM:620080
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis	OMIM:614069
Hypophosphatasia	Emphysema, Failure to thrive in infancy	ORPHA:436
Avian Influenza	Pneumonia, Congestive heart failure, Respiratory distress, Pleural effusion, Tachypnea, Pneumotho...	ORPHA:454836
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy	ORPHA:26792
Ciliary Dyskinesia, Primary, 6	Recurrent sinusitis, Abnormal ciliary motility, Sinusitis, Recurrent respiratory infections, Cili...	OMIM:610852
Chops Syndrome	Aspiration pneumonia, Obesity, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Anomalous ...	OMIM:616368
Immunodeficiency 52	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Failure to thrive	OMIM:617514
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal bleeding, Decreased liver function, Cherry red spot of ...	ORPHA:77293
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Gout	OMIM:232800
Meckel Syndrome 14	Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Pneumothorax, Pulmonary hypoplasia	OMIM:619879
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Respiratory tract infection	OMIM:619445
Peroxisome Biogenesis Disorder 1A (Zellweger)	Failure to thrive, Cryptorchidism, Prolonged neonatal jaundice, Hepatomegaly, Intrahepatic biliar...	OMIM:214100
Chromosome 13Q33-Q34 Deletion Syndrome	Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Pulmonary...	OMIM:619148
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increas...	ORPHA:97278
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Abdominal situs inversus, Atrial reentry tachycardia, De...	OMIM:270100
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse...	OMIM:613177
Diaphanospondylodysostosis	Abnormal liver lobulation, Pulmonary hypoplasia	OMIM:608022
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexi...	ORPHA:2552
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesenter...	ORPHA:284
Keutel Syndrome	Recurrent otitis media, Recurrent sinusitis, Pulmonary artery stenosis, Pulmonary arterial hypert...	ORPHA:85202
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Pulmonary hypoplasia	OMIM:614091
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Recurrent pneumonia	ORPHA:254875
Acute Promyelocytic Leukemia	Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi...	ORPHA:520
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Pulmonary hypoplasia	OMIM:612530
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Pulmonary hypoplasia	OMIM:151210
Adult-Onset Still Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Interstitial pneumonitis, Spl...	ORPHA:829
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Pulmonary hypoplasia	ORPHA:1190
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Pneumothorax	ORPHA:1302
Marden-Walker Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:248700
Immunodeficiency 92	Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Hepatomegaly, Cholangitis	OMIM:619652
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Hypertension, Lung adenocarcinoma	OMIM:618913
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Decreased testicular size, Heart murmur, Cryptorchidism	ORPHA:1867
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Mosaic Trisomy 16	Coarctation of aorta, Patent ductus arteriosus, Single coronary artery origin, Abnormal lung morp...	ORPHA:1708
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Heterotaxy, Visceral, 1, X-Linked	Total anomalous pulmonary venous return, Failure to thrive, Polysplenia, Abdominal situs inversus...	OMIM:306955
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Hepatosplenomegal...	ORPHA:911
Czeizel-Losonci Syndrome	Hypoplastic nipples, Pulmonary hypoplasia	ORPHA:2437
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Atrophic gastritis, Recurrent pneumonia, Inflammation of the large intestine, Failure ...	OMIM:614700
Ciliary Dyskinesia, Primary, 52	Total anomalous pulmonary venous return, Recurrent otitis media, Abdominal situs ambiguus, Transp...	OMIM:620570
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Arrhythmia, Varicose veins, Tubulointerstitial nephriti...	ORPHA:33001
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Achondrogenesis	Aplasia/Hypoplasia of the lungs	ORPHA:932
Triosephosphate Isomerase Deficiency	Cholelithiasis, Failure to thrive, Congestive heart failure, Cholecystitis, Splenomegaly, Prolong...	OMIM:615512
Hypocomplementemic Urticarial Vasculitis	Emphysema, Pleural effusion, Splenomegaly, Episcleritis, Skin rash, Inflammatory abnormality of t...	ORPHA:36412
Fusariosis	Pneumonia, Keratitis, Fasciitis, Abnormality of the spleen, Abnormality of the liver, Osteomyelit...	ORPHA:228119
Mosaic Trisomy 1	Pulmonary artery atresia, Hepatic agenesis, Coarctation of aorta, Pulmonary hypoplasia	ORPHA:1692
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Persistent l...	OMIM:617478
Mercury Poisoning	Hypotension, Respiratory distress, Interstitial pneumonitis, Dyspnea, Tachycardia, Hypertension	ORPHA:330021
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:608184
Verloove Vanhorick-Brubakk Syndrome	Abnormality of the parathyroid gland, Aplasia/Hypoplasia of the lungs, Cryptorchidism	ORPHA:3429
Scleromyxedema	Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att...	ORPHA:167635
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Atelectasis, Splenomegaly, Neonatal death, Hypoplastic nipples, Hepatomegaly...	OMIM:269860
22Q11.2 Deletion Syndrome	Cryptorchidism, Hypoparathyroidism, Purpura, Patent ductus arteriosus, Chronic otitis media, Chol...	ORPHA:567
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Pulmonary artery atresia, Tetralogy of Fallot, Prolonged PR interval	OMIM:108900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Portal hypertension, Cryptorchidism	OMIM:620365
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Recurrent pneumonia, Intercostal retractions, Right v...	ORPHA:1329
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Failure to thriv...	OMIM:209920
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensatory tachycardia,...	ORPHA:85443
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis, Vasculitis in the skin	ORPHA:319552
15Q11.2 Microdeletion Syndrome	Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta	ORPHA:261183
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th...	ORPHA:60025
Thoracoabdominal Syndrome	Transposition of the great arteries, Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:313850
Cardiac-Urogenital Syndrome	Accessory spleen, Interrupted aortic arch, Tetralogy of Fallot, Scimitar anomaly, Cryptorchidism,...	OMIM:618280
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Eczematoid dermatitis, Failure to thrive, Cryptorchidism, ...	ORPHA:83617
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Elevated circulating hepatic transaminase concentration, Infla...	ORPHA:26793
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Recurrent respiratory infections, Bronc...	OMIM:618523
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Pulmonary hypoplasia	OMIM:617022
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Prolonged PR ...	ORPHA:99106
Giant Cell Arteritis	Vasculitis, Hepatic failure, Epistaxis, Aortic dissection, Double outlet right ventricle with sub...	ORPHA:397
Lymphatic Malformation 12	Neonatal death, Pleural thickening, Death in adolescence, Recurrent upper and lower respiratory t...	OMIM:620014
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port...	OMIM:617394
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Omenn Syndrome	Pneumonia, Failure to thrive, Splenomegaly, Erythroderma, Hepatomegaly, Thyroiditis	ORPHA:39041
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Osteomyelitis,...	ORPHA:232
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re...	OMIM:620067
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail...	ORPHA:905
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Arteria lusoria, Left axis deviation, Truncus arteriosus, Tra...	OMIM:620294
Microcephaly-Micromelia Syndrome	Neonatal death, Pulmonary hypoplasia	OMIM:251230
Congenital Myopathy 17	Failure to thrive in infancy, Respiratory tract infection, Pulmonary hypoplasia	OMIM:618975
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Pulmonary hypoplasia	ORPHA:1865
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid...	OMIM:240300
Simple Cryoglobulinemia	Nephritis, Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Hypertension, Strok...	ORPHA:91139
Immunodeficiency 62	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Congenital Myopathy 10A, Severe Variant	Respiratory distress	OMIM:614399
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Bundle branch block, Cryptorchidism, Abnormality of the pulmonary ar...	ORPHA:500
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs	ORPHA:2570
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Recurren...	OMIM:301082
Laryngomalacia	Respiratory distress	OMIM:150280
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Hereditary Spherocytosis	Cholelithiasis, Restrictive cardiomyopathy, Gout, Splenomegaly, Hepatomegaly, Jaundice, Maculopap...	ORPHA:822
Ciliary Dyskinesia, Primary, 37	Chronic rhinitis, Right aortic arch, Bronchiectasis, Goiter	OMIM:617577
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Lymphocytic interstitial pneumonia	OMIM:247610
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Immunodeficiency 60 And Autoimmunity	Ulcerative colitis, Splenomegaly, Crohn's disease, Recurrent sinopulmonary infections, Colitis, P...	OMIM:618394
Achondrogenesis Type 1B	Aplasia/Hypoplasia of the lungs	ORPHA:93298
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:86893
Malaria	Respiratory distress	ORPHA:673
Digeorge Syndrome	Interrupted aortic arch, Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Right aorti...	OMIM:188400
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,...	ORPHA:420741
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Dyspnea	ORPHA:2759
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Recurrent cutaneous f...	ORPHA:276
Cirrhotic Cardiomyopathy	Abnormal bleeding, Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated...	ORPHA:57777
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Failure to thrive, Tetralogy of Fallot, ...	ORPHA:974
Metatropic Dysplasia	Aplasia/Hypoplasia of the lungs	ORPHA:2635
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Large for gestational age, Hydrocele testis, Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:614080
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Bilateral cryptorchidi...	ORPHA:2326
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Weight loss, Intraalveolar phospholipid accumulation, Foam cells	ORPHA:747
Bacterial Toxic-Shock Syndrome	Pneumonia, Hypotension, Hepatitis, Fasciitis, Shock, Osteomyelitis, Respiratory tract infection, ...	ORPHA:36234
Gaucher Disease	Splenic infarction, Gingival bleeding, Cholelithiasis, Hepatic failure, Abnormal bleeding, Hepati...	ORPHA:355
Cat Eye Syndrome	Total anomalous pulmonary venous return, Tetralogy of Fallot, Biliary atresia, Patent ductus arte...	OMIM:115470
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:619167
Acro-Renal-Mandibular Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:958
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs	ORPHA:93299
Autosomal Recessive Spondylocostal Dysostosis	Cryptorchidism, Anomalous pulmonary venous return	ORPHA:2311
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg...	ORPHA:99103
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
8P23.1 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Tetralogy of Fallot, Obesity, Cryptorchidism, Abnormal aortic morpho...	ORPHA:251071
Desmosterolosis	Patent ductus arteriosus, Failure to thrive, Splenomegaly, Anomalous pulmonary venous return	ORPHA:35107
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Inflammation of the large intestine, Abnormal salivary gland morphology...	OMIM:181000
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Splenomegaly	OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:194380
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Splenomegaly, Stroke, Hepatomegaly, Jaundice, Hypertension	OMIM:603903
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgit...	OMIM:613426
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Severe failure to thrive, Bradycardia, Recurrent respiratory in...	ORPHA:97297
Craniosynostosis, Herrmann-Opitz Type	Aplasia/Hypoplasia of the lungs	ORPHA:2145
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Weight loss	ORPHA:100083
Autosomal Recessive Multiple Pterygium Syndrome	Aortic aneurysm, Cryptorchidism, Failure to thrive, Pulmonary hypoplasia	ORPHA:2990
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Whipple Disease	Uveitis, Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Infectious encephalitis, Myositi...	ORPHA:3452
Genitopatellar Syndrome	Cryptorchidism, Pulmonary hypoplasia	ORPHA:85201
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Purpura, Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Recurrent otitis med...	OMIM:618268
Solitary Fibrous Tumor	Neoplasm of the liver, Weight loss, Neoplasia of the pleura, Abnormal peritoneum morphology, Neop...	ORPHA:2126
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Hepatosplenomegaly, Recurrent sinusit...	OMIM:618986
Granulomatosis With Polyangiitis	Prostatitis, Arrhythmia, Weight loss, Inflammatory abnormality of the eye, Purpura, Chronic otiti...	ORPHA:900
Fryns Syndrome	Abnormal aortic arch morphology, Tetralogy of Fallot, Abnormal aortic morphology, Cryptorchidism,...	ORPHA:2059
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Otitis ...	OMIM:602450
Alagille Syndrome 2	Cholestatic liver disease, Peripheral pulmonary artery stenosis, Cholestasis, Tetralogy of Fallot...	OMIM:610205
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Recurrent aphthous stomatitis, Splenomegaly, Bronchiectasis, Chronic oral ca...	OMIM:150550
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Abdominal situs ambiguus, Hypoplastic aortic arch, Rig...	OMIM:619702
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hypertrophic cardiomyopathy	OMIM:613561
Renal Agenesis	Hypertension, Pulmonary hypoplasia	ORPHA:411709
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Abnormal capillary physiology	ORPHA:100057
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation	ORPHA:2063
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Chylothorax, Subdural hemorrhage, Respiratory distress, Death in childhood, Death in infancy, Cer...	OMIM:620278
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy	OMIM:615042
Zygomycosis	Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Dilatation of the...	ORPHA:73263
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated circulating hepatic transaminase concentration, Chronic mucocutaneous candidiasis, Recur...	ORPHA:79124
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural effusio...	ORPHA:31204
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Elevated circula...	ORPHA:333
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Tetraploidy	Aplasia/Hypoplasia of the lungs	ORPHA:3305
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Stillbirth, Cryptorchidism, Pulmonary hypoplasia	OMIM:616300
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Psoriasi...	OMIM:616100
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs	ORPHA:93274
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer...	OMIM:614878
Insulin Autoimmune Syndrome	Weight loss, Arthralgia/arthritis	ORPHA:411593
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Gas...	ORPHA:247691
Meier-Gorlin Syndrome 4	Emphysema, Breast hypoplasia, Cryptorchidism, Failure to thrive	OMIM:613804
Distal Deletion 15Q	Abnormal aortic arch morphology, Failure to thrive, Double outlet right ventricle with doubly com...	ORPHA:1596
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Peritonitis, Telangiec...	ORPHA:679
Inhalational Anthrax	Respiratory distress, Hypotension, Dyspnea, Internal hemorrhage	ORPHA:247257
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess	OMIM:619223
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Pulmonary venous hypertension, Splenomegaly, Intermittent jaundice, Portal vein t...	ORPHA:3202
Omenn Syndrome	Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Erythroderma, Hepatomegaly	OMIM:603554
Immunodeficiency 64 With Lymphoproliferation	Failure to thrive, Hepatosplenomegaly, Splenomegaly, Recurrent lower respiratory tract infections...	OMIM:618534
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Atelectasis, Osteomyelitis, Skin rash, Vascular dilatation, Recurrent resp...	ORPHA:2314
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta...	OMIM:619752
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Failure to thrive, Coronary artery fistula, Wolff-Parkinson-White syndrom...	OMIM:619343
Esophageal Atresia	Bronchitis, Failure to thrive in infancy, Tetralogy of Fallot, Esophagitis, Coarctation of aorta,...	ORPHA:1199
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Pulmonary arterial hypertension, Dyspnea	ORPHA:228116
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Decreased response to growth hormone stimulation test, Pyoderm...	OMIM:307200
Pulmonary Hypertension, Primary, 3	Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary...	OMIM:615343
Acquired Methemoglobinemia	Respiratory distress, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia	ORPHA:464453
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Cerebral vasculitis, ...	OMIM:613179
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Pauci-Immune Glomerulonephritis	Arteritis, Pulmonary hemorrhage, Abnormality of the pulmonary vasculature, Scleritis, Pancreatiti...	ORPHA:93126
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Gastrointestinal hemorrhage, Hematochezia, Epistaxis, Failure to thri...	ORPHA:2929
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:614868
Tarp Syndrome	Failure to thrive, Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Pulmo...	ORPHA:2886
Behçet Disease	Mitral regurgitation, Weight loss, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestin...	ORPHA:117
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cardiomyopathy	ORPHA:86812
Thymoma	Rheumatoid arthritis, Obstruction of the superior vena cava, Myositis, Weight loss, Glomeruloneph...	ORPHA:99867
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Peripheral pulmonary artery stenosis, Vascular tortuosity, Emphysema, Supra...	OMIM:219100
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Abnormality of th...	ORPHA:2869
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti...	OMIM:618131
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia, Second degree atrioventricular block, Breast aplasia, Cryptorchidism, Decre...	OMIM:617063
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato...	OMIM:211530
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Palpable purpura, Cerebr...	ORPHA:48435
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia	OMIM:200600
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiom...	OMIM:261740
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Tach...	OMIM:614299
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphol...	ORPHA:29207
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Aortic root aneurysm, Bruising susceptibility, Atelectasis, Stroke, Thoracic aortic aneurysm, Asc...	ORPHA:536467
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Failure to thrive, Aspiration pneumonia	ORPHA:431361
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection...	OMIM:619632
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Polycythemia Vera	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib...	ORPHA:729
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Recurrent respiratory infections, Cachexia, Arteriovenous malformation	ORPHA:702
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin...	ORPHA:486
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:37042
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis...	ORPHA:93672
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Cerebrotendinous Xanthomatosis	Cholelithiasis, Premature coronary artery atherosclerosis, Prolonged neonatal jaundice, Abnormal ...	ORPHA:909
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged QRS complex, Ischemic s...	ORPHA:90068
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failure to thrive, Ch...	OMIM:615486
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Osteo...	OMIM:306400
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia	OMIM:601559
Achondroplasia	Recurrent otitis media, Pulmonary hypoplasia	OMIM:100800
Greenberg Dysplasia	Abnormal lung lobation, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Neonatal death, He...	OMIM:215140
Erythrokeratodermia Variabilis	Weight loss, Skin rash, Abnormal testis morphology	ORPHA:317
Shigellosis	Pneumonia, Hypovolemic shock, Hepatic failure, Ulcerative colitis, Cholestasis, Failure to thrive...	ORPHA:810
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Failure to thrive, Pleural effusion, Pulmonary arteriovenous malformati...	OMIM:606721
Netherton Syndrome	Eczematoid dermatitis, Emphysema, Skin rash, Erythroderma, Recurrent respiratory infections	ORPHA:634
Fontaine Progeroid Syndrome	Absent nipple, Failure to thrive, Tricuspid regurgitation, Cryptorchidism, Neonatal death, Hypopl...	OMIM:612289
Mu-Heavy Chain Disease	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:100024
Desmosterolosis	Total anomalous pulmonary venous return, Failure to thrive, Patent ductus arteriosus	OMIM:602398
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Failure to thrive, Aplasia of the thymus, Atypical or prolonged...	ORPHA:83471
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Atelectasis, Shock, Skin ra...	ORPHA:319213
Glycogen Storage Disease Xii	Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen...	OMIM:611881
Ogden Syndrome	Peripheral pulmonary artery stenosis, Eczematoid dermatitis, Recurrent otitis media, Decreased te...	OMIM:300855
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Aortic regurgitation	ORPHA:309288
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce...	OMIM:607330
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Hepatic fibrosis, Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:263520
Gm1 Gangliosidosis	Failure to thrive, Cardiomyopathy, Aspiration pneumonia, Congestive heart failure, Cherry red spo...	ORPHA:354
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit...	ORPHA:728
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Splenomegaly, Weight ...	ORPHA:507
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh...	ORPHA:2299
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Panbronchiolitis, Diffuse	Bronchiectasis, Foam cells	OMIM:604809
Rhabdoid Tumor	Neoplasm of the liver, Weight loss, Hypertension, Internal hemorrhage	ORPHA:69077
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In...	ORPHA:449400
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation, Failure to thrive	OMIM:300770
Lymphatic Malformation 7	Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion	OMIM:617300
Alg9-Cdg	Periportal fibrosis, Abnormal lung lobation, Tricuspid regurgitation, Hepatic cysts, Abnormal ren...	ORPHA:79328
Choanal Atresia	Respiratory distress, Recurrent respiratory infections	ORPHA:137914
Dpagt1-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Stroke-like episode, ...	ORPHA:86309
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:36426
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia	OMIM:273395
Fixed Subaortic Stenosis	Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit...	ORPHA:3092
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Congestive heart failure, Emphysema, D...	ORPHA:90349
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, Pr...	ORPHA:449395
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Double outlet right vent...	OMIM:301056
Right Pulmonary Artery, Anomalous Origin Of, Familial	Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a...	OMIM:610338
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly	ORPHA:231154
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Pustule, Sy...	ORPHA:77297
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Holzgreve Syndrome	Abnormal mesentery morphology, Aplasia/Hypoplasia of the lungs	ORPHA:2167
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Abdominal situs inversus, Congenitally corrected transpositio...	OMIM:617205
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Chronic Hiccup	Weight loss	ORPHA:396
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR inte...	ORPHA:308552
Immunodeficiency 12	Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Recurrent lower respiratory trac...	OMIM:615468
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Hepatomegaly, Chronic otitis media, Splenomegaly	ORPHA:169090
Unilateral Polymicrogyria	Stroke, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Mirage Syndrome	Aspiration pneumonia, Decreased testicular size, Cryptorchidism, Petechiae, Decreased body weight...	OMIM:617053
Idiopathic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Peritonitis, Pulmonary embolism, Respiratory tract infection	ORPHA:567548
Hemorrhagic Fever-Renal Syndrome	Decreased body weight, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephritis, Tachyca...	ORPHA:340
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy, Irregular respiration, Cardi...	OMIM:604377
Immunodeficiency 31C	Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Splenomegaly, Weight los...	OMIM:614162
Acute Myelomonocytic Leukemia	Weight loss, Abnormal bleeding	ORPHA:517
Vacterl With Hydrocephalus	Cryptorchidism, Pulmonary hypoplasia	ORPHA:3412
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Chronic hepatic fail...	ORPHA:465508
Seckel Syndrome 9	Pulmonary artery hypoplasia, Small for gestational age, Recurrent respiratory infections	OMIM:616777
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Metachromatic Leukodystrophy	Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology	ORPHA:512
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus, Pulmonary hypoplasia	ORPHA:1112
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Stillbirth, Pulmonary hypoplasia	OMIM:308050
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Failure to thrive, Atelectasis, Hypertrophic cardiomyopathy, Thoracic aortic aneurysm...	ORPHA:365
Joubert Syndrome 21	Splenomegaly, Chronic sinusitis, Pulmonary hypoplasia	OMIM:615636
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Obesity, Cholecystitis, Hepatomegaly	OMIM:301066
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Morbilliform rash, Erythema nodosum, Hepatomegaly, Jaundice, Tachycardia, Purp...	ORPHA:99827
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Congenital Enterovirus Infection	Hypotension, Abnormal bleeding, Cardiomyopathy, Respiratory distress, Pleural effusion, Myocarditis	ORPHA:292
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent otitis medi...	OMIM:600802
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Corneal neovascularization, Ke...	OMIM:158310
Aicardi-Goutieres Syndrome 7	Pneumonia, Atrophic gastritis, Atopic dermatitis, Vasculitis, Hematochezia, Hepatitis, Hypertroph...	OMIM:615846
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:537
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy	OMIM:619383
Otopalatodigital Syndrome Type 2	Failure to thrive, Pulmonary hypoplasia	ORPHA:90652
Isaacs Syndrome	Weight loss	ORPHA:84142
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Aspiration pneumonia	ORPHA:79264
Raine Syndrome	Neonatal death, Pulmonary hypoplasia	OMIM:259775
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia	OMIM:616430
Mast Cell Sarcoma	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:66661
Pseudomyxoma Peritonei	Inflammation of the large intestine, Weight loss, Abnormal peritoneum morphology	ORPHA:26790
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
Loeys-Dietz Syndrome 4	Aortic root aneurysm, Bruising susceptibility, Aortic dissection, Arterial tortuosity, Emphysema,...	OMIM:614816
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Familial Thrombocytosis	Abnormal bleeding, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmonary arterial...	ORPHA:71493
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Eczematoid dermatitis, Failure to thrive, Abnormal lung lobation, Recu...	OMIM:270400
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Pulmonary arterial hypertension, Exertional dyspnea, Recur...	ORPHA:98915
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Left ventricular diastolic dysfunction	OMIM:620375
Cerebrotendinous Xanthomatosis	Angina pectoris, Cholelithiasis, Myocardial infarction	OMIM:213700
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Recurrent aphthous stomatitis, Crohn's disease, Weight loss,...	OMIM:266600
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Hypo...	OMIM:192430
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Decreased body weight, M...	ORPHA:258
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Cryptorchidism, Splenomegaly, Coarcta...	OMIM:249000
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Mitr...	OMIM:212140
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Hepatomegaly, Recurrent lo...	OMIM:226300
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Biliary cirrhosis, Abnormality of body weight, Skin rash, Polycystic ovarie...	ORPHA:2298
Erdheim-Chester Disease	Congestive heart failure, Osteomyelitis, Pleural effusion, Skin rash, Weight loss, Abnormal pulmo...	ORPHA:35687
Atelosteogenesis Type Ii	Pulmonary hypoplasia	ORPHA:56304
Fryns Syndrome	Chylothorax, Polysplenia, Large for gestational age, Cryptorchidism, Stillbirth, Ectopic pancreat...	OMIM:229850
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hep...	OMIM:219700
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Abnormality of the liver, Aplasia/Hypoplasia of the lungs	ORPHA:1834
Congenital Syphilis	Pneumonia, Keratitis, Hepatosplenomegaly, Petechiae, Synovitis, Pancreatitis, Myocarditis, Prolon...	ORPHA:499009
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta	ORPHA:2876
Classic Hodgkin Lymphoma	Hepatomegaly, Weight loss, Skin rash, Splenomegaly	ORPHA:391
19Q13.11 Microdeletion Syndrome	Failure to thrive, Supernumerary nipple, Cryptorchidism, Cachexia, Recurrent respiratory infections	ORPHA:217346
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy,...	OMIM:617303
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's disease, Wolff-Parkinson-White synd...	OMIM:619705
Orofaciodigital Syndrome Type 4	Failure to thrive, Decreased testicular size, Bilateral lung agenesis, Absent testis, Recurrent r...	ORPHA:2753
Atypical Werner Syndrome	Aortic valve stenosis, Failure to thrive, Abnormal cerebral vascular morphology, Congestive heart...	ORPHA:79474
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Neu-Laxova Syndrome	Pulmonary hypoplasia	ORPHA:2671
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Bruising susceptibility, Em...	OMIM:130050
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Pleural effusion, Abnormal lymphatic vessel mor...	ORPHA:90362
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Cardiomyopathy	ORPHA:79312
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Adrenal hyperplasia, Jaundice, Macroorchidism	ORPHA:90790
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs	ORPHA:2549
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepat...	OMIM:618278
Mckusick-Kaufman Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:236700
Williams Syndrome	Cryptorchidism, Mitral regurgitation, Polycystic ovaries, Overriding aorta, Chronic otitis media,...	ORPHA:904
Spondyloenchondrodysplasia	Pneumonia, Vasculitis, Hepatitis, Decreased response to growth hormone stimulation test, Skin ras...	ORPHA:1855
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Cerebral ischemia	ORPHA:927
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Cryptorchidism	ORPHA:98905
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Telangiectasia	OMIM:608799
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras...	ORPHA:324964
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary arterial hypertension, ...	OMIM:616482
Fanconi Anemia, Complementation Group F	Pneumonia, Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidi...	OMIM:603467
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss, Menorrhagia	ORPHA:168816
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Cachexia, Congestive heart failure	ORPHA:157973
Double Outlet Left Ventricle	Failure to thrive, Cryptorchidism, Abnormal right ventricular function, Pulmonary artery stenosis...	ORPHA:3427
Multiple Pterygium Syndrome, Escobar Variant	Hypoplastic nipples, Cryptorchidism, Pulmonary hypoplasia	OMIM:265000
Poems Syndrome	Increased circulating prolactin concentration, Pleural effusion, Splenomegaly, Pulmonary arterial...	ORPHA:2905
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, Conjunctivit...	OMIM:601495
Blomstrand Lethal Chondrodysplasia	Coarctation of aorta, Pulmonary hypoplasia	ORPHA:50945
Neurofibroma	Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract...	ORPHA:252183
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Isolated Atp Synthase Deficiency	Respiratory distress, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Secondary Short Bowel Syndrome	Failure to thrive, Atherosclerosis, Cholestasis, Enterocolitis, Weight loss	ORPHA:95427
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Cutaneous abscess, ...	ORPHA:331235
Tetanus	Respiratory distress, Tachypnea, Bradycardia, Tachycardia, Hypertension	ORPHA:3299
Vacterl/Vater Association	Abnormality of the pancreas, Abnormality of the gallbladder, Aplasia/Hypoplasia of the lungs, Cry...	ORPHA:887
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Prominent scalp veins, Cryptorchidism, Agenesis of pineal gland, Ascending...	ORPHA:536471
Listeriosis	Pneumonia, Arteritis, Septic arthritis, Congestive heart failure, Osteomyelitis, Pyelonephritis, ...	ORPHA:533
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Abnormal lung lobation	ORPHA:3301
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, Cryptorchidism, Patent ductus arteriosus	OMIM:300963
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Recurrent lower resp...	OMIM:618426
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Aplasia/Hypoplasia of the lungs	ORPHA:1860
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Respiratory distress, Pulmonary arterial hypertension, Abnormal pulmonary in...	ORPHA:209905
Tako-Tsubo Cardiomyopathy	Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricular fibrillation, ST segment elevation...	ORPHA:66529
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,...	ORPHA:538
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Venous insuff...	ORPHA:743
Immunodeficiency 43	Recurrent respiratory infections, Bronchiectasis, Lung abscess	OMIM:241600
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Hereditary Elliptocytosis	Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly	ORPHA:288
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Failure to thrive, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Weight loss,...	ORPHA:1018
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Neuroendocrine Tumor Of The Colon	Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ...	ORPHA:100080
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Abnormality of the gallbladder, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:818
Thymic Neuroendocrine Tumor	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	ORPHA:97289
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Radio-Renal Syndrome	Respiratory distress, Chylothorax, Dyspnea, Pleural effusion	ORPHA:3015
Fetal Akinesia Deformation Sequence 1	Stillbirth, Small for gestational age, Cryptorchidism, Pulmonary hypoplasia	OMIM:208150
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Adrenocortical Carcinoma	Palpitations, Lung adenocarcinoma, Increased body weight, Adrenocorticotropic hormone deficiency,...	ORPHA:1501
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Small for gestational age	ORPHA:79243
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:275761
Huntington Disease-Like 2	Weight loss	OMIM:606438
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Cryptorchidism, Pulmonary artery stenosis, Premature ventricular contraction, ...	OMIM:620504
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100082
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Weight l...	ORPHA:100086
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Coarctation of aorta, Patent ductus...	OMIM:600460
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cachexia, Cirrhosis, Weight loss, Macrov...	ORPHA:298
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th...	OMIM:613658
Acrorenal-Mandibular Syndrome	Absent nipple, Pulmonary hypoplasia	OMIM:200980
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypotension, Failure to thrive...	ORPHA:293978
Gaucher Disease, Type Ii	Bronchiolitis, Failure to thrive, Splenomegaly, Hepatomegaly, Recurrent aspiration pneumonia, Dou...	OMIM:230900
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath...	ORPHA:79430
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Peters Plus Syndrome	Cryptorchidism, Abnormality of the pulmonary artery, Patent ductus arteriosus, Abnormal pulmonary...	ORPHA:709
Graves Disease	Congestive heart failure, Weight loss, Goiter	OMIM:275000
Coccidioidomycosis	Pneumonia, Vasculitis, Folliculitis, Vasospasm, Exudative pleural effusion, Abnormality of the sp...	ORPHA:228123
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Respiratory distres...	ORPHA:363705
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Respiratory distress, Prolonged...	OMIM:616271
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Hepatosplenomegaly, Hypersple...	ORPHA:98850
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Wolman Disease	Hepatic failure, Splenomegaly, Cachexia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Erythroderma, Portal fibrosis, Eczemato...	ORPHA:3260
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Abnormality of the anterior pituitary, Posterior pituitary hypoplasia	ORPHA:75389
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormality of the pulmonary vasculature, Telangiectasia of the skin, Apla...	ORPHA:2092
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Pyoderma, Epididymitis, Recurrent si...	OMIM:300755
Cap Polyposis	Atrophic gastritis, Hematochezia, Weight loss	ORPHA:160148
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly, Mitral regurgitation	OMIM:617809
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu...	ORPHA:97292
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,...	OMIM:301074
Primary Myelofibrosis	Abnormal bleeding, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Petechiae, Ecchymosis, ...	ORPHA:824
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Large for gesta...	ORPHA:96334
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Pulmonary artery atresia	ORPHA:1908
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia, Patent ductus arteriosus, Bilateral cryptorc...	OMIM:300472
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Weight loss, Goiter	OMIM:188580
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Bronchitis, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, Splenomeg...	OMIM:619381
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Bronchiectasis	OMIM:615434
Moynahan Syndrome	Cachexia	ORPHA:2574
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr...	OMIM:615344
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ...	ORPHA:3208
Osteogenesis Imperfecta, Type Vii	Absent pulmonary artery, Hypoplastic pulmonary veins	OMIM:610682
Sarcoidosis	Abnormal pleura morphology, Arrhythmia, Weight loss, Erythema nodosum, Tubulointerstitial nephrit...	ORPHA:797
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent otitis me...	OMIM:245150
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Decreased body mass index, Failure to th...	ORPHA:586
Eisenmenger Syndrome	Elevated jugular venous pressure, Right ventricular failure, Tricuspid regurgitation, Palpitation...	ORPHA:97214
Alkaptonuria	Aortic valve stenosis, Atherosclerosis, Black pigment gallstones, Mitral regurgitation, Mitral st...	ORPHA:56
Dyskeratosis Congenita, Autosomal Dominant 1	Budd-Chiari syndrome, Hepatic necrosis, Interstitial pneumonitis, Cirrhosis, Pulmonary fibrosis	OMIM:127550
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Meier-Gorlin Syndrome 6	Failure to thrive, Emphysema, Decreased response to growth hormone stimulation test, Cryptorchidi...	OMIM:616835
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Raynaud phenomenon,...	OMIM:607944
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:263700
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Vascular tortuosity...	OMIM:614437
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Immunodeficiency 23	Allergic rhinitis, Aortic root aneurysm, Eczematoid dermatitis, Chronic mucocutaneous candidiasis...	OMIM:615816
Mogs-Cdg	Respiratory distress, Pulmonary edema, Apnea, Hypoventilation	ORPHA:79330
Hennekam-Beemer Syndrome	Pneumonia, Hypotension, Failure to thrive, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato...	ORPHA:42
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress	OMIM:250940
Acute Radiation Syndrome	Hypotension, Inflammatory abnormality of the skin, Abnormal bleeding, Interstitial pneumonitis, T...	ORPHA:454831
Mcdonough Syndrome	Cachexia, Cryptorchidism	ORPHA:2471
Meckel Syndrome, Type 7	Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, P...	OMIM:267010
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiomyopathy, Tricu...	OMIM:253200
Eosinophilic Fasciitis	Myositis, Weight loss, Arthritis, Fasciitis	ORPHA:3165
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Double aortic arch, Patent ductus arteriosus, Heart block, Aortic regurgitation, Thir...	ORPHA:216694
Liposarcoma	Weight loss, Varicose veins	ORPHA:69078
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress	ORPHA:1145
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Otitis media, Skin rash, Telangiectasia, Abdo...	ORPHA:125
Cryptococcosis	Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritonitis, Cirrh...	ORPHA:1546
Neu-Laxova Syndrome 1	Cryptorchidism, Neonatal death, Transposition of the great arteries, Stillbirth, Patent ductus ar...	OMIM:256520
Congenital Tracheal Stenosis	Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Preductal...	ORPHA:141127
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:619487
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Schinzel-Giedion Syndrome	Recurrent pneumonia, Annular pancreas, Failure to thrive in infancy, Streak ovary, Hepatoblastoma...	ORPHA:798
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Atherosclerosis	ORPHA:1979
Ethylene Glycol Poisoning	Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Episodic respirato...	ORPHA:31826
Lethal Congenital Contracture Syndrome 9	Pulmonary hypoplasia	OMIM:616503
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat...	ORPHA:3342
Malt Lymphoma	Posterior uveitis, Recurrent respiratory infections, Weight loss	ORPHA:52417
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Colitis, Recurrent pneumonia, Bronchiectasis	OMIM:301220
Thymic Carcinoma	Abnormal vena cava morphology, Weight loss	ORPHA:99868
Osteogenesis Imperfecta	Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Aortic ...	ORPHA:666
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Kikuchi-Fujimoto Disease	Vasculitis, Elevated circulating hepatic transaminase concentration, Malar rash, Enlargement of p...	ORPHA:50918
Dermatomyositis	Vasculitis, Elevated circulating hepatic transaminase concentration, Heliotrope rash, Sinus tachy...	ORPHA:221
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Decreased liver function, Congestive heart failure, Hepatosplenomega...	ORPHA:85450
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Pleural effusion, Respiratory tract infect...	ORPHA:567546
Neonatal Marfan Syndrome	Aortic root aneurysm, Emphysema, Decreased testicular size, Tricuspid regurgitation, Mitral regur...	ORPHA:284979
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Nodular Non-Suppurative Panniculitis	Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis	ORPHA:33577
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia	ORPHA:52368
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Bradycardia	ORPHA:226313
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Portal hypertension, Prol...	ORPHA:367
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Weight loss, Hematochezia	ORPHA:2070
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:616005
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos...	OMIM:619377
Central Diabetes Insipidus	Weight loss, Failure to thrive	ORPHA:178029
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Patent ductus arteriosus	OMIM:620113
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cerebellar hemorrhage, Cardiomyopathy	OMIM:251000
Marfan Syndrome	Aortic regurgitation, Arterial dissection, Spontaneous pneumothorax, Pulmonary artery dilatation,...	ORPHA:558
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Punctate keratitis, Weight loss, Arthritis	ORPHA:92050
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Hepatitis, Ec...	ORPHA:391487
Down Syndrome	Tetralogy of Fallot, Pulmonary artery stenosis, Double outlet right ventricle, Partial anomalous ...	OMIM:190685
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Transient ischemic attack, Retinal arterial occlusion, Ab...	ORPHA:464343
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu...	ORPHA:100075
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Penile Agenesis	Bilateral lung agenesis, Cryptorchidism, Pulmonary hypoplasia	ORPHA:49
Restrictive Dermopathy 1	Neonatal death, Stillbirth, Patent ductus arteriosus, Pulmonary hypoplasia	OMIM:275210
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss, Goiter	OMIM:613239
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Exertional dyspnea, Death in childhood, Hypertrophic cardiomyopathy	OMIM:220110
Acute Adrenal Insufficiency	Hypotension, Failure to thrive, Recurrent acute respiratory tract infection, Stroke, Weight loss,...	ORPHA:95409
Alfadhel Syndrome	Nasal flaring	OMIM:620655
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Moebius Syndrome	Respiratory distress	OMIM:157900
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Restrictive Dermopathy	Pulmonary hypoplasia, Aplasia/Hypoplastia of the eccrine sweat glands, Transposition of the great...	ORPHA:1662
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Steinert Myotonic Dystrophy	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, ...	ORPHA:273
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Tricuspid regurgitat...	ORPHA:505248
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentra...	ORPHA:73230
Rheumatoid Arthritis	Vasculitis, Rheumatoid arthritis, Weight loss	OMIM:180300
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Death in childhood	OMIM:613848
Riboflavin Transporter Deficiency	Cachexia, Hypertension	ORPHA:97229
Flynn-Aird Syndrome	Cachexia, Atherosclerosis	ORPHA:2047
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepatic steato...	OMIM:619991
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran...	ORPHA:562639
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating p...	ORPHA:97283
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Total anomalous pulmonary venous return, Patent ductus arteriosus	ORPHA:487796
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Huntington Disease	Weight loss, Decreased body mass index	ORPHA:399
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia, Failure to thrive	ORPHA:2203
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Weight los...	ORPHA:71273
Congenital Myasthenic Syndrome	Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde...	ORPHA:98914
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Renpenning Syndrome	Decreased testicular size, Cachexia	ORPHA:3242
Mgat2-Cdg	Abnormal bleeding, Respiratory distress, Arrhythmia, Reflex asystolic syncope, Recurrent upper an...	ORPHA:79329
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss	ORPHA:2221
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Weight loss	ORPHA:103910
Shwachman-Diamond Syndrome	Pneumonia, Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Eczema...	ORPHA:811
Ellis Van Creveld Syndrome	Emphysema, Failure to thrive, Aplasia/Hypoplasia of the lungs, Cryptorchidism	ORPHA:289
Arterial Tortuosity Syndrome	Aortic valve stenosis, Aortic regurgitation, Aortic root aneurysm, Bruising susceptibility, Gener...	OMIM:208050
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Lissencephaly Due To Lis1 Mutation	Dilation of Virchow-Robin spaces, Aspiration pneumonia	ORPHA:95232
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu...	ORPHA:100078
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Hypertensive crisis, Respiratory tract infection, Hypertension, Pancreatitis, Myocardi...	ORPHA:544482
Glossopharyngeal Neuralgia	Syncope, Weight loss, Vascular dilatation, Bradycardia, Jaw claudication	ORPHA:221098
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea	ORPHA:2707
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Hepatosplenomegaly, Cardiomyopathy, Aspiration pneumonia	ORPHA:79255
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti...	OMIM:301072
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Christianson Syndrome	Cachexia	ORPHA:85278
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive...	OMIM:212750
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Cholera	Hypovolemic shock, Hypotension, Aspiration pneumonia, Stroke, Tachycardia	ORPHA:173
Multiple Myeloma	Weight loss, Pleural effusion, Splenomegaly	ORPHA:29073
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated circulating alanine...	OMIM:619534
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Peripheral pulmonary artery stenosis, Bronchiolitis, Congestive heart failu...	ORPHA:90348
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Lip...	ORPHA:20
Good Syndrome	Recurrent respiratory infections, Recurrent skin infections, Bronchiectasis, Sinusitis	ORPHA:169105
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct...	OMIM:618329
Peripheral Primitive Neuroectodermal Tumor	Abnormal bleeding, Weight loss, Pancreatitis, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas	ORPHA:370348
Ménétrier Disease	Gastrointestinal hemorrhage, Weight loss, Giant hypertrophic gastritis	ORPHA:2494
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Splenomegaly	ORPHA:2930
Glucagonoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating p...	ORPHA:97280
Leptospirosis	Hypotension, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Arrhythmia, First degr...	ORPHA:509
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo...	OMIM:233450
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi...	OMIM:613610
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Pulmonary artery atresia, Patent ductus arteriosus, Cryptorchidism	OMIM:616894
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Fraser Syndrome 1	Cryptorchidism, Pulmonary hypoplasia	OMIM:219000
Wolf-Hirschhorn Syndrome	Failure to thrive, Abdominal situs inversus, Abnormality of the gallbladder, Cryptorchidism, Apla...	ORPHA:280
Leukocyte Adhesion Deficiency	Pneumonia, Abnormal bleeding, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Respirator...	ORPHA:2968
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Budd-Chiari syndrome, Large vessel vasculitis, Psoriasiform dermatitis, Ren...	ORPHA:49041
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation	OMIM:612863
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon...	ORPHA:94093
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Recu...	OMIM:150230
Zollinger-Ellison Syndrome	Hyperparathyroidism, Gastrointestinal hemorrhage, Hematochezia, Pituitary adenoma, Pituitary prol...	ORPHA:913
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Cryptorchidism	OMIM:609945
Fabry Disease	Atrioventricular block, Congestive heart failure, Emphysema, Hypertrophic cardiomyopathy, Bundle ...	ORPHA:324
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,...	ORPHA:436252
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Arrhythmia, Myoca...	ORPHA:31824
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Familial Chylomicronemia Syndrome	Pulmonary embolism, Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Decreased body weig...	ORPHA:444490
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Plague	Inflammation of the large intestine, Hypotension, Lymphadenitis, Abnormal bleeding, Chapped lip, ...	ORPHA:707
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p...	OMIM:212093
Ulbright-Hodes Syndrome	Pneumothorax, Cryptorchidism, Pulmonary hypoplasia	ORPHA:3404
Late-Onset Isolated Acth Deficiency	Hypotension, Pituitary adenoma, Hepatitis, Failure to thrive, Hashimoto thyroiditis, Adrenocortic...	ORPHA:199299
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Failure to thrive, Bilateral cryptorchidism, Aspira...	OMIM:602535
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Sepsis In Premature Infants	Hypotension, Abnormal bleeding, Petechiae, Bradycardia, Dyspnea, Tachycardia, Nasal flaring, Purpura	ORPHA:90051
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Myocardial infarction	OMIM:274150
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Refractory Celiac Disease	Inflammatory abnormality of the skin, Abnormal spleen physiology, Weight loss, Elevated circulati...	ORPHA:398063
Kniest Dysplasia	Respiratory distress	OMIM:156550
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Neonatal death	OMIM:618186
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly	ORPHA:1133
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Polysplenia, Abnormal lung lobation, Supernumerary nippl...	OMIM:312870
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea, Hypertrophic cardiomyopathy	ORPHA:17
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Urinary bladder inflammation, Fasciitis,...	ORPHA:99921
Infantile Krabbe Disease	Respiratory distress, Abnormal heart rate variability	ORPHA:206436
Fraser Syndrome	Pulmonary hypoplasia, Cryptorchidism, Abnormal lung lobation	ORPHA:2052
Holoprosencephaly	Failure to thrive in infancy, Panhypopituitarism, Abnormality of the spleen, Tetralogy of Fallot,...	ORPHA:2162
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Weight loss, Neoplasm ...	ORPHA:440437
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Respiratory tract infection, Infectious encephalitis, Pustule, Arrhythmia, Sinusitis	ORPHA:68
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Splenomegaly, Otitis media, Chronic rhinitis, Pulmonary artery stenosis,...	ORPHA:667
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Bradycardia	ORPHA:70
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Hypotension, Failure to thrive, Hypertrophic cardiomyopathy, Cryptorchidis...	ORPHA:361
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cryptorchidism, Congenital hepatic fibrosis, Pulmonary hypoplasia	ORPHA:93271
Mucopolysaccharidosis Type 3	Atrioventricular block, Aspiration pneumonia, Reduced left ventricular ejection fraction, Splenom...	ORPHA:581
Degcags Syndrome	Pneumonia, Failure to thrive, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Persistent left su...	OMIM:619488
Fibromuscular Dysplasia, Multifocal	Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th...	OMIM:619329
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Weight loss, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Meier-Gorlin Syndrome 1	Failure to thrive, Emphysema, Breast hypoplasia, Cryptorchidism, Small for gestational age	OMIM:224690
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertension	ORPHA:1555
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocycl...	ORPHA:85408
Marfan Syndrome	Aortic regurgitation, Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissection, Conge...	OMIM:154700
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Decreased body weight, Coarctation of aorta, Double outlet right ventricle...	OMIM:618164
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Failure to thrive, Angular cheilitis, Weight loss, Tachycardia	ORPHA:35858
Osteosarcoma	Weight loss	ORPHA:668
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Vipoma	Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Neopl...	ORPHA:97282
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Patent ductus arteriosus, Pulmonic stenosis	OMIM:614609
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Cardiomyopathy	OMIM:217980
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypotension, Weight loss, Hypertension	ORPHA:134
Chand Syndrome	Atelectasis	ORPHA:1401
Neuroblastoma	Respiratory distress, Abnormal bleeding, Hypertension	ORPHA:635
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Aortic valve stenosis, Vascular ring, Failure to thrive, Obesity, Cryptorchidism, Otit...	ORPHA:353281
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Failure to thrive	ORPHA:349
Tuberous Sclerosis Complex	Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Internal hemor...	ORPHA:805
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Prolonged bleeding following procedure, Hepat...	ORPHA:79259
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Respiratory distress, Pulmonary ...	ORPHA:79282
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Subcutaneous hemorrhage, Hashimoto thyroiditis, Angina pectoris, Tela...	ORPHA:109
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent respiratory...	ORPHA:397715
Kasabach-Merritt Phenomenon	Hypopnea, Respiratory distress, Petechiae, Prolonged prothrombin time, Purpura	ORPHA:2330
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Cardiac conduction abnormality, Arr...	ORPHA:2131
Hereditary Angioedema Type 1	Respiratory distress, Hypotension, Dyspnea	ORPHA:100050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Partial anomalous pulmonary venous return	OMIM:301044
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Dilated cardiomyopathy	OMIM:251110
Alpha-Mannosidosis, Infantile Form	Pneumonia, Aortic regurgitation, Hepatosplenomegaly, Otitis media, Mitral regurgitation	ORPHA:309282
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections	ORPHA:177907
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia, Cryptorchidism, Failure to thrive	OMIM:247200
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dilated cardiomyopathy, Failure to thrive, Pyoderma, Pneumothorax, Gastrointestinal in...	ORPHA:79404
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis	ORPHA:37
Genitopatellar Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:606170
Rodrigues Blindness	Nasal flaring	OMIM:268320
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Carotid artery dilatatio...	OMIM:619472
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Pulmonary a...	ORPHA:280633
Tetrasomy 12P	Cachexia	ORPHA:884
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Tetralogy of Fallot, Cryptorc...	ORPHA:1465
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Cryptorchidism, Abnormality of the pancreas	ORPHA:3376
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Periodontitis, Failure to thrive, Atelectasis, Cryptorchidism, Arthritis, Re...	ORPHA:534
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Pyomyositis	Testicular teratoma, Myositis, Weight loss, Sudden cardiac death, Recurrent cutaneous abscess for...	ORPHA:764
Niemann-Pick Disease Type C	Hepatic failure, Aspiration pneumonia, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly...	ORPHA:646
Parkinson Disease 4, Autosomal Dominant	Weight loss, Orthostatic hypotension	OMIM:605543
Peters-Plus Syndrome	Cryptorchidism, Decreased body weight, Biliary tract abnormality, Bilobate gallbladder, Patent du...	OMIM:261540
Loeys-Dietz Syndrome 2	Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Spontaneous pneumothorax, Aortic r...	OMIM:610168
Neuroblastoma, Susceptibility To, 1	Weight loss, Hypertension, Failure to thrive	OMIM:256700
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Failure ...	OMIM:619525
Tay-Sachs Disease	Cherry red spot of the macula, Aspiration pneumonia	ORPHA:845
Mitochondrial Dna-Associated Leigh Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cardiac conduction abnormality, Episo...	ORPHA:255210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Failure to thrive, Hyphema, Recurrent otitis media, Tetralogy of Fallot, C...	ORPHA:261552
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Splenomegaly, Syncope, Weight loss, Hepatomegaly, Tachycardia	ORPHA:98849
Cornelia De Lange Syndrome 1	Pneumonia, Hypoplastic nipples, Cryptorchidism, Otitis media	OMIM:122470
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Metachromatic Leukodystrophy, Adult Form	Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Nijmegen Breakage Syndrome	Recurrent pneumonia, Cachexia, Recurrent sinopulmonary infections, Recurrent respiratory infections	ORPHA:647
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aortic root aneurysm, Congestive heart failure, Decreased response to growth hormone stimulation ...	ORPHA:444077
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Failure to thrive, Recurrent otitis media, Tetralogy of Fallot, Cryptorchi...	ORPHA:261537
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Congestive heart failure	OMIM:617156
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive, Cholestasis, Hepatic ...	OMIM:261515
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Overhydrated Hereditary Stomatocytosis	Pulmonary embolism, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:185000
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypertension	OMIM:123790
Opitz Gbbb Syndrome	Aortic root aneurysm, Cryptorchidism, Persistent left superior vena cava, Coarctation of aorta, E...	ORPHA:2745
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Bruising susceptibility, Pancreatic adenocarcinoma, Pheochromocytoma, ...	ORPHA:99889
Silver-Russell Syndrome	Failure to thrive in infancy, Decreased testicular size, Obesity, Cryptorchidism, Cachexia	ORPHA:813
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Arteria lusoria, Psoriasiform dermatitis, Arthritis, Recurrent aspiration pneumonia, Chronic oral...	ORPHA:221139
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Weight loss, Hepatomegaly	OMIM:613673
Pallister-Killian Syndrome	Aortic valve stenosis, Supernumerary nipple, Hypertrophic cardiomyopathy, Obesity, Cryptorchidism...	OMIM:601803
Adnp Syndrome	Respiratory distress, Recurrent upper respiratory tract infections	ORPHA:404448
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Meester-Loeys Syndrome	Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Bruising susceptibility, Dila...	OMIM:300989
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress	OMIM:183900
Perry Syndrome	Weight loss	OMIM:168605
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss	ORPHA:677
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Weight loss	ORPHA:3337
Adams-Oliver Syndrome 1	Aortic valve stenosis, Supernumerary nipple, Tetralogy of Fallot, Pulmonary artery stenosis, Pulm...	OMIM:100300
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Pemphigus Vulgaris	Weight loss, Recurrent cutaneous abscess formation	ORPHA:704
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Neuromuscular Oculoauditory Syndrome	Respiratory distress	OMIM:618733
Fanconi Anemia	Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormality of the ...	ORPHA:84
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Juvenile Polyposis Of Infancy	Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Abnormal bleeding, Cachexia, Mele...	ORPHA:79076
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Carotid artery occlusion, Atherosclerosis, Left vent...	ORPHA:740
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Aspiration pneumonia	OMIM:619482
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Gitelman Syndrome	Prominent U wave, Abnormal T-wave, Respiratory distress, Palpitations, ST segment depression, Syn...	ORPHA:358
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Cachexia	OMIM:175500
Rett Syndrome	Cachexia, Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Short Syndrome	Weight loss	ORPHA:3163
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:97286
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Aortic valve stenosis, Vascular ring, Failure to thrive, Obesity, Cryptorchidism, Otit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Aortic valve stenosis, Vascular ring, Failure to thrive, Obesity, Cryptorchidism, Otit...	ORPHA:353277
Arboleda-Tham Syndrome	Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections, Pulmonic ...	OMIM:616268
Fatal Familial Insomnia	Weight loss	OMIM:600072
Castleman Disease	Jaundice, Restrictive cardiomyopathy, Weight loss	ORPHA:160
Proteus Syndrome	Pulmonary cyst, Bronchogenic cyst, Thymus hyperplasia, Pulmonary embolism, Abnormal lung lobation...	ORPHA:744
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Xfe Progeroid Syndrome	Cachexia, Elevated circulating hepatic transaminase concentration, Hypertension, Failure to thrive	OMIM:610965
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Weight loss, Cryptorchidism	OMIM:301310
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Weight loss, Reduced pancreatic beta cells, Hypovolemia	ORPHA:99885
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Aspiration pneumonia	ORPHA:99027
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Salivary gland neoplas...	ORPHA:144
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Craniofacial Microsomia 1	Tetralogy of Fallot, Right aortic arch, Coarctation of aorta, Patent ductus arteriosus, Pulmonary...	OMIM:164210
Familial Gestational Hyperthyroidism	Weight loss, Thyroid hyperplasia, Goiter	ORPHA:99819
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism	ORPHA:2075
Campomelic Dysplasia	Respiratory distress, Recurrent lower respiratory tract infections, Recurrent upper respiratory t...	OMIM:114290
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Cachexia, Skin rash	ORPHA:220295
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardio...	OMIM:164310
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Cachexia, Obesity	ORPHA:85293
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Parathyroid Carcinoma	Parathyroid carcinoma, Shortened QT interval, Pancreatic adenocarcinoma, Abnormal parathyroid mor...	ORPHA:143
Cornelia De Lange Syndrome 6	Pulmonary artery atresia	OMIM:620568
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Hypotension, Increased circulating prolactin concentration, ...	ORPHA:91347
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ...	ORPHA:733
Multiple Endocrine Neoplasia Type 1	Melena, Pituitary adenoma, Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma,...	ORPHA:652
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Multiple Osteochondromas	Pneumothorax, Hemothorax, Arthritis, Pseudoaneurysm	ORPHA:321
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:95455
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Tricuspid regurgitatio...	ORPHA:2556
Systemic Lupus Erythematosus	Discoid lupus rash, Malar rash, Weight loss, Lupus nephritis, Raynaud phenomenon, Arthritis, Chei...	ORPHA:536
Alobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimulation test, P...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimulation test, P...	ORPHA:93926
Lobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimulation test, P...	ORPHA:93924
Semilobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia, Decreased response to growth hormone stimulation test, P...	ORPHA:220386
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Thyrotoxic Periodic Paralysis	Second degree atrioventricular block, Obesity, Palpitations, Shortened PR interval, Weight loss, ...	ORPHA:79102
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot...	ORPHA:79078
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Weight loss	ORPHA:309031
Rubinstein-Taybi Syndrome 1	Respiratory distress, Recurrent upper respiratory tract infections, Respiratory tract infection	OMIM:180849
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
8Q24.3 Microdeletion Syndrome	Respiratory distress, Gastrointestinal hemorrhage, Abnormal lung lobation	ORPHA:508488
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Weight loss, Mitral regurgitation	OMIM:607459
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Addison Disease	Hypotension, Failure to thrive, Hashimoto thyroiditis, Weight loss, Orthostatic hypotension, Hypo...	ORPHA:85138
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Failure to thrive, Prominent scalp veins, Cryptorchidism, Hypoplasia of the thymus, Re...	OMIM:264090
African Trypanosomiasis	Myelitis, Keratitis, Conjunctivitis, Third degree atrioventricular block, Congestive heart failur...	ORPHA:3385
Microphthalmia, Syndromic 1	Recurrent otitis media, Cryptorchidism, Pulmonary hypoplasia	OMIM:309800
Cockayne Syndrome	Vascular calcification, Elevated circulating hepatic transaminase concentration, Retinal arteriol...	ORPHA:191
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea	ORPHA:2554
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Schwartz-Jampel Syndrome	Decreased testicular size, Decreased body weight, Arrhythmia, Pulmonary arterial hypertension, Ca...	ORPHA:800
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Stickler Syndrome	Slender build, Arrhythmia, Cachexia, Osteoarthritis, Recurrent respiratory infections, Chronic ot...	ORPHA:828
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Vascular Ehlers-Danlos Syndrome	Periodontitis, Cryptorchidism, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and me...	ORPHA:286
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Charge Syndrome	Parathyroid hypoplasia, Decreased response to growth hormone stimulation test, Tetralogy of Fallo...	OMIM:214800
Hereditary Sensory And Autonomic Neuropathy Type 4	Septic arthritis, Bruising susceptibility, Fasciitis, Osteomyelitis, Orthostatic hypotension due ...	ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Increased circulating prolactin concentration, Aspira...	ORPHA:438213
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress	OMIM:305100
Cystinosis, Nephropathic	Failure to thrive, Failure to thrive in infancy, Exocrine pancreatic insufficiency, Splenomegaly,...	OMIM:219800
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Failure to thrive, Shock, Decreased testicular size, Weight loss, Testicular adrenal...	ORPHA:90794
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Scleritis, Vitreous hemorrhag...	ORPHA:91500
Trisomy 18	Cachexia, Cryptorchidism	ORPHA:3380
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
Generalized Arterial Calcification Of Infancy	Respiratory distress, Transient ischemic attack, Left ventricular systolic dysfunction, Weak puls...	ORPHA:51608
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea	ORPHA:3206
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Choreoacanthocytosis	Dilated cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Splenomega...	ORPHA:2388
Camurati-Engelmann Disease	Hypertrophic cardiomyopathy, Slender build, Splenomegaly, Cachexia, Hepatomegaly	ORPHA:1328
Yunis-Varon Syndrome	Absent nipple, Cardiomyopathy, Aspiration pneumonia, Failure to thrive in infancy, Tetralogy of F...	OMIM:216340
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia, Coarctation of aorta, Cryptorchidism	OMIM:147920
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Inc...	ORPHA:79318
Seckel Syndrome	Cachexia	ORPHA:808
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Sotos Syndrome	Small cell lung carcinoma, Cryptorchidism, Aortic aneurysm, Patent ductus arteriosus, Prolonged n...	ORPHA:821
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Alström Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Dilated cardiomyopathy, Conges...	ORPHA:64
Norrie Disease	Cachexia, Cryptorchidism, Failure to thrive, Venous insufficiency	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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