Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Elk3 MGI:101762

Gene Summary

Name:

ELK3, member of ETS oncogene family

Synonyms:

Net, D430049E23Rik, Sap-2, Erp

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Elk3^Elk3	HOM	Early adult	2.09×10^-05
increased circulating cholesterol level	Elk3^em1(IMPC)Ics	HET	Early adult	5.61×10^-07
increased circulating alkaline phosphatase level	Elk3^em1(IMPC)Ics	HET	Early adult	7.18×10^-07
decreased prepulse inhibition	Elk3^Elk3	HOM	Early adult	2.05×10^-07
abnormal retina blood vessel pattern	Elk3^Elk3	HOM	Early adult	3.80×10^-05
increased circulating HDL cholesterol level	Elk3^em1(IMPC)Ics	HET	Early adult	8.30×10^-05
abnormal retina vasculature morphology	Elk3^Elk3	HOM	Early adult	3.80×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Elk3 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 Elk3 (0 diseases)
Human diseases predicted to be associated with Elk3 (656 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Elk3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car...	ORPHA:50251
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chronic pu...	ORPHA:2414
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure...	ORPHA:132
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede...	OMIM:265300
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac...	ORPHA:36238
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar...	ORPHA:79126
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Asbestos Intoxication	Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on...	ORPHA:2302
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Congenital Heart Block	Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he...	ORPHA:60041
Sarcoidosis, Susceptibility To, 2	Dyspnea, Mediastinal lymphadenopathy, Pneumothorax, Splenomegaly, Bronchiectasis, Abnormal pulmon...	OMIM:612387
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Primary Effusion Lymphoma	Pericardial effusion, Dyspnea, Pleural effusion	ORPHA:48686
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul...	OMIM:610476
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta...	ORPHA:45452
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ...	ORPHA:538
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Elevated circulating creatine kinase concentration	ORPHA:88635
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l...	ORPHA:1041
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Inability to walk, Abnormal respiratory system physiology, Respiratory in...	ORPHA:266
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Loss of ambulation, Respiratory failure	OMIM:300717
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm...	OMIM:267450
Follicular Lymphoma	Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion	ORPHA:545
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv...	ORPHA:137667
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Inability to walk, Respiratory failu...	ORPHA:90117
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee...	ORPHA:60032
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Cough, Abno...	ORPHA:77260
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax	OMIM:620278
Tularemia	Respiratory distress, Tachycardia, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Mediast...	ORPHA:3392
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate...	ORPHA:563
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Respiratory failure, Respiratory insufficiency	OMIM:611722
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure, Polyhydramnios	OMIM:616794
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:253300
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnorm...	OMIM:620233
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed...	ORPHA:100057
Focal Segmental Glomerulosclerosis 1	Hypertension, Pleural effusion, Ascites, Edema	OMIM:603278
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Hypocomplementemic Urticarial Vasculitis	Ataxia, Pericardial effusion, Dyspnea, Angioedema, Splenomegaly, Lymphadenopathy, Small vessel va...	ORPHA:36412
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ...	ORPHA:69735
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, Chylothorax, Polyhydramnios	OMIM:619036
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion	OMIM:602248
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi...	OMIM:612877
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, Cough,...	ORPHA:188
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Acute Lung Injury	Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A...	ORPHA:178320
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenop...	OMIM:234810
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left...	ORPHA:542323
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit...	ORPHA:2902
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo...	ORPHA:330001
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation	OMIM:619483
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti...	OMIM:620236
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Stillbirth, Neonatal death, Pulmonary arterial hy...	OMIM:619751
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, P...	OMIM:300580
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Hepatosplenom...	ORPHA:2590
Hennekam Syndrome	Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph...	ORPHA:2136
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Ataxia	OMIM:618637
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co...	OMIM:261740
Aspergillosis	Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti...	ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh...	OMIM:614702
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency	OMIM:616081
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia	OMIM:153400
Muscular Dystrophy, Duchenne Type	Waddling gait, Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, C...	OMIM:310200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Respiratory failure, Apnea, Bradycardia	OMIM:616277
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Pseudo-Torch Syndrome 2	Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,...	OMIM:617397
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion	ORPHA:85414
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo...	OMIM:620326
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Scedosporiosis	Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst...	ORPHA:449280
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem...	ORPHA:90186
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal...	ORPHA:70588
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter...	OMIM:620296
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Hemochromatosis, Type 1	Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effus...	OMIM:235200
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi...	ORPHA:2038
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory failure, Difficu...	OMIM:611890
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn...	OMIM:232300
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Broad-base...	OMIM:610978
Tibial Muscular Dystrophy	Cardiomyopathy, Respiratory failure, Steppage gait, Difficulty walking	ORPHA:609
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Idiopathic Pulmonary Hemosiderosis	Nodular pattern on pulmonary HRCT, Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, ...	ORPHA:99931
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Lethargy	ORPHA:26792
Nemaline Myopathy 8	Respiratory failure, Polyhydramnios	OMIM:615348
Immunodeficiency 91 And Hyperinflammation	Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Lymph...	OMIM:619644
Familial Atrial Fibrillation	Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations	ORPHA:334
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Respiratory failure, Apnea, Polyhydramnios	OMIM:618414
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial...	ORPHA:60033
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respi...	OMIM:614299
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, ...	OMIM:613563
Sarcoidosis	Abnormal cardiac ventricular function, Abnormal pleura morphology, Portal hypertension, Heart blo...	ORPHA:797
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular...	ORPHA:3282
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of...	ORPHA:284227
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Splenome...	ORPHA:464329
Pontocerebellar Hypoplasia, Type 13	Recurrent respiratory infections, Edema, Inability to walk, Asthma, Gait ataxia, Pleural effusion	OMIM:618606
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Succinic Acidemia	Respiratory distress	OMIM:600335
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Respiratory failure	OMIM:613435
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl...	OMIM:115197
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Ataxia, Epistaxis, Periorbital edema, Congestive heart failure, Sple...	ORPHA:33226
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A...	ORPHA:1677
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Lethal Congenital Contracture Syndrome 2	Akinesia, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure	OMIM:607598
Intermediate Nemaline Myopathy	Cardiomyopathy, Respiratory failure, Difficulty walking, Polyhydramnios	ORPHA:171433
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure	OMIM:618233
Hepatic Veno-Occlusive Disease	Respiratory failure, Ascites	ORPHA:890
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Lethargy, Hypertrophic cardiomyopathy, Respiratory insufficiency due to mus...	OMIM:613561
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Snakebite Envenomation	Tachycardia, Epistaxis, Edema, Myocardial infarction, Angioedema, Intracranial hemorrhage, Respir...	ORPHA:449285
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, Constrictive pericarditi...	ORPHA:67
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Polyhydramnios	OMIM:225753
Congenital Enterovirus Infection	Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops f...	ORPHA:292
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Bradykinesia, Falls	ORPHA:240085
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Dyspnea, P...	ORPHA:567546
Arthrogryposis Multiplex Congenita 6	Akinesia, Respiratory failure, Neonatal death, Polyhydramnios	OMIM:619334
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk	OMIM:617977
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Inability to walk, Congestive heart failure, Respiratory failure, Hypertrophic cardiomyop...	ORPHA:70472
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Perching Syndrome	Respiratory distress	OMIM:617055
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Splenomegaly, Dehydration, Choreoathetosis, Cardiomyopathy, Lethargy	ORPHA:79312
Erythrocyte Lactate Transporter Defect	Elevated circulating creatine kinase concentration	OMIM:245340
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ...	ORPHA:99105
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory failure, E...	OMIM:312170
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Respiratory failure, Lethargy	OMIM:619386
Myopathy And Diabetes Mellitus	Respiratory distress, Inability to walk, Tip-toe gait, Progressive cerebellar ataxia	ORPHA:2596
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Waddling gait, Dyspnea, Cardiomyopathy, Difficulty walking, Cough	ORPHA:86812
Immunodeficiency 54	Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Respi...	OMIM:609981
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Congenital Muscular Dystrophy With Intellectual Disability	Loss of ambulation, Respiratory failure, Respiratory insufficiency	ORPHA:370968
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Pedal edema, Heart m...	ORPHA:422
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera...	ORPHA:64739
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund...	OMIM:613243
Gorham-Stout Disease	Lymphangioma, Pleural effusion, Edema, Rhinorrhea	ORPHA:73
Noonan Syndrome 8	Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic stenosis, Hypertrophic cardiomyo...	OMIM:615355
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Hypotension, Cough	ORPHA:99825
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy	OMIM:237310
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu...	ORPHA:679
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch...	OMIM:613490
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum...	ORPHA:330021
Q Fever	Respiratory distress, Pericarditis, Pneumonia, Pericardial effusion, Myocarditis, Splenomegaly, V...	ORPHA:781
Hyperekplexia 4	Respiratory failure	OMIM:618011
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa...	ORPHA:352447
Pediatric Systemic Lupus Erythematosus	Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Lymphadenopathy, Pleural effusion, Ascites	ORPHA:93552
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Spinocerebellar Ataxia Type 1	Dysmetria, Bradykinesia, Progressive cerebellar ataxia, Respiratory failure, Dysdiadochokinesis, ...	ORPHA:98755
Nephronophthisis 2	Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins...	OMIM:602088
Fryns Syndrome	Polyhydramnios, Stillbirth, Chylothorax, Polysplenia, Pulmonary hypoplasia	OMIM:229850
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop...	OMIM:113900
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Splenomegaly, Recurrent pneumonia, Recurrent tonsillitis, Hepatosplenomegaly, Lymp...	OMIM:618935
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu...	ORPHA:1329
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Respiratory insufficiency, Res...	OMIM:609015
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Polyhydramnios	OMIM:616867
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor	ORPHA:97285
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Lethal Recessive Chondrodysplasia	Respiratory distress, Polyhydramnios, Edema	ORPHA:1423
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Pleural effus...	OMIM:616897
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th...	ORPHA:142
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Hypertension, Pulmonary hypoplasia, Oligohydramnios	OMIM:616733
Ovarian Fibroma	Pleural effusion, Ascites	ORPHA:314473
Pulmonary Alveolar Microlithiasis	Bronchitis, Right ventricular failure, Respiratory tract infection, Nonproductive cough, Dyspnea,...	ORPHA:60025
Leigh Syndrome	Respiratory failure, Ataxia, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea, Hepatosplenomegaly, Restricti...	ORPHA:210136
Ring Chromosome 22 Syndrome	Gait ataxia, Pleural effusion, Edema, Lymphedema	ORPHA:1446
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Difficulty walking, Nocturnal hypoventilation	OMIM:603689
Solar Urticaria	Edema, Periorbital edema, Dyspnea, Wheezing, Angioedema, Syncope	ORPHA:97230
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Respiratory failure, Ataxia, Gait ataxia	ORPHA:363400
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Poems Syndrome	Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, R...	ORPHA:2905
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Lymphedema, Splenomegaly, Lymphadenopathy, Intracranial hemorrh...	ORPHA:3226
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive...	ORPHA:1344
Carnitine Deficiency, Systemic Primary	Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation...	OMIM:212140
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l...	ORPHA:340
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arterial hypertension, ...	OMIM:605711
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure	ORPHA:2759
Lymphoproliferative Syndrome 1	Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy	OMIM:613011
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Ataxia, Congenital laryngeal stridor	ORPHA:2254
Boutonneuse Fever	Respiratory failure, Vasculitis, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive ...	ORPHA:367
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav...	ORPHA:75249
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P...	ORPHA:90362
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Transient ischemic attack, Supraventricular ar...	ORPHA:3260
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Apnea, Ataxia, Difficulty walking	ORPHA:79097
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy	OMIM:615838
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula...	OMIM:115195
Hypoglossia With Situs Inversus	Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia	OMIM:612776
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Loss of ambulation, Respiratory failure, Ataxia	OMIM:620166
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept...	OMIM:608758
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Respiratory failure, Arrhythmia, Hypertrophic cardiomyopathy, Oligohydr...	ORPHA:1194
Combined Oxidative Phosphorylation Deficiency 11	Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Neonatal death, Lethargy	OMIM:614922
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona...	ORPHA:98913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t...	OMIM:612098
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency, Polyhydramnios	OMIM:615330
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal death, Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency	OMIM:245400
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Pericardial effusion, Dyspnea, Mediastinal lymphadenopathy, Splenome...	OMIM:181000
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure, Tip-toe gait, Difficulty walking	OMIM:606612
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Res...	ORPHA:746
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Nocardiosis	Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn...	ORPHA:31204
Erdheim-Chester Disease	Ataxia, Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Joint swel...	ORPHA:35687
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,...	OMIM:615512
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Bronchitis, Neonatal...	ORPHA:420741
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Bradykinesia	ORPHA:240103
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Difficulty walking	OMIM:613954
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia	ORPHA:79237
Slc35A1-Cdg	Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	OMIM:211530
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha...	ORPHA:100050
Alg1-Cdg	Cardiomyopathy, Respiratory failure	ORPHA:79327
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Gait ataxia	OMIM:612075
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait	OMIM:616505
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy, Inspiratory stridor,...	OMIM:604377
Cholestasis, Progressive Familial Intrahepatic, 5	Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Ovarian Fibrothecoma	Pleural effusion, Ascites	ORPHA:314478
Isolated Atp Synthase Deficiency	Respiratory distress, Ataxia, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic cardiomy...	ORPHA:254913
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Pericard...	ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Splenomegaly, Ataxia, Telangiectasia	OMIM:608799
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh...	OMIM:618291
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Respiratory failu...	OMIM:220110
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardi...	OMIM:235510
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Mediastinal lymphade...	ORPHA:1546
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Lethargy, Choreoathetosis	ORPHA:289916
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P...	OMIM:160900
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Chylothorax, Pulmonic stenosis, Lymphedema	OMIM:163950
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios	ORPHA:1143
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, P...	ORPHA:117
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Ataxia, Fetal ascites, Polyhydramnios, Splenomegaly, Respiratory i...	OMIM:607625
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Cerebral ischemia, Ataxia	ORPHA:927
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress	OMIM:615042
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Pericardial effusion...	ORPHA:555874
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency, Polyhydramnios	OMIM:618186
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Congestive heart failure, Inability to walk, Cardiorespiratory arrest, Restrictive venti...	ORPHA:26791
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia	ORPHA:1861
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection	OMIM:620011
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Waddling gait, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypopla...	OMIM:620369
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress	OMIM:616974
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy...	OMIM:609040
Hellp Syndrome	Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo...	ORPHA:244242
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Inability to walk, Dystonic gait, Respiratory failure, Difficulty walking	ORPHA:280210
Holocarboxylase Synthetase Deficiency	Respiratory distress, Lethargy, Tachypnea, Ataxia	ORPHA:79242
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters...	OMIM:617180
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure	OMIM:618240
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Inability to walk, Respiratory insufficiency, Pulmonary arterial hy...	ORPHA:258
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
American Trypanosomiasis	Edema, Periorbital edema, Dyspnea, Congestive heart failure, Myocarditis, Splenomegaly, Lymphaden...	ORPHA:3386
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat...	OMIM:616482
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Palpebral edema, Ataxia, Myocarditis, Cervical lymphadenopathy, Vasc...	ORPHA:50918
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi...	OMIM:613873
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Cough, Pleural ef...	OMIM:306400
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Pleural effusion, Edema	OMIM:617822
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Edema, Unsteady gait, Gait ataxia, Anasarca, Pleural effusion	OMIM:254900
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,...	OMIM:618183
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level	ORPHA:528
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta...	ORPHA:365
Aortic Arch Interruption	Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa...	ORPHA:2299
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy	OMIM:251000
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ventricular fail...	ORPHA:97287
Episodic Ataxia Type 1	Respiratory distress, Tip-toe gait, Choreoathetosis	ORPHA:37612
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ataxia, As...	ORPHA:209905
Chédiak-Higashi Syndrome	Recurrent respiratory infections, Ataxia, Epistaxis, Edema, Pericardial effusion, Inability to wa...	ORPHA:167
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges...	ORPHA:3092
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Periorbital edema, Atelectasis, ...	ORPHA:73263
Tetanus	Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia	ORPHA:3299
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia, Difficulty walking	OMIM:620249
Fusariosis	Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Abnormality o...	ORPHA:228119
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Poliomyelitis	Respiratory failure requiring assisted ventilation, Inability to walk, Hypertension, Respiratory ...	ORPHA:2912
Leptospirosis	Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymp...	ORPHA:509
Idiopathic Pulmonary Arterial Hypertension	Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Dy...	ORPHA:275766
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Mediastinal lymphadenop...	ORPHA:228123
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul...	ORPHA:97214
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Constrict...	ORPHA:99095
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ...	ORPHA:90363
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Respiratory insufficiency, Respirat...	OMIM:608836
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
3-Methylglutaconic Aciduria Type 7	Choreoathetosis, Cardiomyopathy, Respiratory failure, Pneumothorax	ORPHA:445038
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Dyspnea...	ORPHA:439
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary art...	OMIM:265380
Cocaine Intoxication	Respiratory distress, Prolonged QT interval, Tachycardia, Pulmonary edema, Prolonged QRS complex,...	ORPHA:90068
Noonan Syndrome 10	Mitral stenosis, Increased nuchal translucency, Hypertrophic cardiomyopathy, Mitral regurgitation...	OMIM:616564
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Oligohydramnios	ORPHA:261304
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia, Lethargy	OMIM:620306
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,...	ORPHA:3342
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p...	ORPHA:98905
Craniofaciofrontodigital Syndrome	Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Polyhydramnios, ...	ORPHA:363705
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,...	ORPHA:137914
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen	ORPHA:89844
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Respiratory failure, Hypovolemic shock, Cardiomyopathy, Oligoh...	ORPHA:158687
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysdiadochokinesis, Gait disturbance	ORPHA:98805
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ...	ORPHA:98915
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Pedal edema, Cardiorespiratory arrest, Cough, Pulmonary ...	ORPHA:228116
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia, Polyhydramnios, Edema of the dorsum of hands	ORPHA:171430
Colchicine Poisoning	Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Akinesia, Splenomegaly, H...	OMIM:608013
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest...	ORPHA:185
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap...	ORPHA:348
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Ataxia, Cerebral edema	OMIM:617186
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Inability to walk, Gait ataxia, Hypertrop...	OMIM:619383
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Polyhydramnios	OMIM:300219
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Geleophysic Dysplasia 3	Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Mitral regurgitation	OMIM:617809
Familial Mediterranean Fever	Splenomegaly, Pleural effusion, Pleuritis, Pericarditis	OMIM:249100
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Nasolacrimal Duct Cyst	Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy...	ORPHA:141083
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Dilated cardiomyopathy, Hypertension, Anasarca, Third degree atrioventr...	OMIM:619573
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Congestive heart failure,...	ORPHA:31826
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Hypercapnia, Reduced forced vital c...	OMIM:164310
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure	OMIM:610678
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehy...	OMIM:616271
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Facial edema, Nonproductive cough, Periorbital edema, Atel...	ORPHA:319213
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Bradycardia	ORPHA:226313
Congenital Myasthenic Syndrome	Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, I...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Recurrent respiratory infections, Sudden episodic apnea, Ataxia, Polyhydramnios, I...	ORPHA:98914
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleural empyem...	ORPHA:544482
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands	ORPHA:544503
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co...	OMIM:617303
Brucellosis	Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Hypersplenism, Myoc...	ORPHA:1304
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress	OMIM:615597
Primary Sclerosing Cholangitis	Portal hypertension, Spider hemangioma, Congestive heart failure, Splenomegaly, Hepatosplenomegal...	ORPHA:171
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Respiratory failure, Hydrops fetalis	ORPHA:88618
Moebius Syndrome	Respiratory distress, Dysdiadochokinesis, Gait disturbance	OMIM:157900
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Abnormal heart rate variability	ORPHA:206436
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund...	ORPHA:75565
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P...	ORPHA:3309
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Ataxia, Splenomegaly, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, R...	OMIM:252010
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios	OMIM:202650
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respiratory insu...	OMIM:610505
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:264580
Joubert Syndrome 21	Apnea, Ataxia, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis	OMIM:615636
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Odontochondrodysplasia	Respiratory distress	ORPHA:166272
Mogs-Cdg	Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Hepatosplen...	ORPHA:79330
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Cough	ORPHA:1054
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Bacterial Toxic-Shock Syndrome	Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Edema, Respiratory tract infectio...	ORPHA:36234
3-Methylglutaconic Aciduria, Type Viii	Apnea, Hypopnea, Respiratory failure, Bradycardia, Neonatal death, Respiratory arrest	OMIM:617248
Multiple Myeloma	Splenomegaly, Pleural effusion, Lymphadenopathy	ORPHA:29073
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa...	OMIM:615745
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Polyhydramnios, Edema, Recurrent upper respiratory tract infections, Recurr...	OMIM:607143
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Sepsis In Premature Infants	Tachycardia, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Splenomegaly, Abnorma...	ORPHA:90051
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency	OMIM:618329
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Polyhydramnios, Congestive heart failure, Lethargy, Ascites	OMIM:617156
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Ataxia, Polyhydramnios, Recurrent pneumonia, ...	ORPHA:496641
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Leigh Syndrome	Ataxia, Congestive heart failure, Choreoathetosis, Athetosis, Respiratory failure, Hypertrophic c...	ORPHA:506
Diaphanospondylodysostosis	Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Pulmonary hypopla...	OMIM:608022
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Generalized edema	OMIM:271225
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Increased nuchal translucency, Pleural effusion	ORPHA:453499
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con...	ORPHA:505248
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Polyhydramnios	OMIM:619847
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Ataxia, Cardiac conduction abnormality, Abnormal T-wave, Dehydration...	ORPHA:2131
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Dysmetri...	OMIM:606721
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:184260
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Listeriosis	Respiratory distress, Pericarditis, Ataxia, Pneumonia, Congestive heart failure, Myocarditis, Res...	ORPHA:533
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Joint swelling, Pulmonary fibrosis, Splenomegaly	OMIM:612852
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy, Dehydration	OMIM:251110
Chronic Graft Versus Host Disease	Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Cough, Ple...	ORPHA:99921
Osteopetrosis, Autosomal Recessive 5	Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth, Ascites	OMIM:259720
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios	OMIM:151210
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Kniest Dysplasia	Respiratory distress, Gait disturbance, Tracheomalacia	OMIM:156550
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Hype...	ORPHA:731
Pancreatitis, Hereditary	Pleural effusion	OMIM:167800
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Congenital Tracheal Stenosis	Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,...	ORPHA:141127
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections, Polyhydramnios	ORPHA:329178
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Palpebral edema, Polyhydramnios	ORPHA:50810
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure	OMIM:614862
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Transient ischemic attack, Myocardial infarction	OMIM:274150
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Recurrent tons...	ORPHA:125
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t...	ORPHA:79138
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:151660
Biotinidase Deficiency	Respiratory distress, Apnea, Ataxia, Lethargy, Hyperventilation	ORPHA:79241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Ataxia	ORPHA:438216
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Tricuspid regurgitation, Persistent fetal circulation	OMIM:612863
Abetalipoproteinemia	Broad-based gait, Ataxia, Congestive heart failure, Dysmetria, Gait ataxia, Respiratory failure, ...	ORPHA:14
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Neonatal respiratory distress, Apnea, Ataxia, Hypopnea, Recurrent lower res...	OMIM:618426
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatospleno...	OMIM:618278
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Dehydratio...	ORPHA:79404
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple...	ORPHA:537
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Polyhydramnios	ORPHA:990
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ataxia, Cardiac conduction abnormality, Dyspnea, Episodic respiratory distress, Dilated ca...	ORPHA:255210
Rajab Interstitial Lung Disease With Brain Calcifications 1	Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici...	OMIM:613658
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Pneumonia, Abnormal retinal vascular morphology, Macular edema, Retinal...	ORPHA:247691
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Lethargy, Dehydration	OMIM:251100
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis, Asplenia	ORPHA:210122
Niemann-Pick Disease Type C	Ataxia, Fetal ascites, Splenomegaly, Abnormal lung morphology, Hydrops fetalis, Respiratory insuf...	ORPHA:646
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Unsteady gait	OMIM:618733
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hy...	ORPHA:79282
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Atrial fibrillation, Prolonged QRS complex, L...	ORPHA:273
Mgat2-Cdg	Respiratory distress, Hydrops fetalis, Reflex asystolic syncope, Arrhythmia, Recurrent upper and ...	ORPHA:79329
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Choreoathetosis, Respiratory paralysis, Abnormal pattern o...	ORPHA:79139
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia	ORPHA:275761
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect, Waddling gait	OMIM:183900
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m...	ORPHA:2020
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hypertension	ORPHA:1555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration	OMIM:300972
Rodrigues Blindness	Nasal flaring	OMIM:268320
Costello Syndrome	Polyhydramnios, Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory...	OMIM:218040
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure, Polyhydramnios	ORPHA:254528
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp...	ORPHA:1199
Plague	Respiratory distress, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly, Unsteady gait...	ORPHA:707
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he...	ORPHA:805
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:99125
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea, Unsteady gait, Choreoathetosis, Hy...	ORPHA:17
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia	ORPHA:79259
Achondroplasia	Respiratory distress, Pulmonary hypoplasia, Upper airway obstruction, Polyhydramnios	OMIM:100800
Myhre Syndrome	Ataxia, Pericardial effusion, Respiratory insufficiency, Hypertension, Respiratory failure, Aorti...	OMIM:139210
Fraser Syndrome 2	Respiratory failure, Hypoplasia of the thymus, Oligohydramnios	OMIM:617666
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Respiratory failu...	ORPHA:2556
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Polyhydramnios, Splenic cyst	OMIM:618188
Gitelman Syndrome	Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-nor...	ORPHA:358
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Pneumonia, Splenomegaly, Lymphadenopathy,...	ORPHA:37042
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hypertension	OMIM:123790
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Broad-based gait, Ataxia, Loss of ambulation, Ascites	OMIM:256810
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease	OMIM:613848
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Abnormal lymphatic vessel morphology	ORPHA:2330
Singleton-Merten Syndrome 1	Waddling gait, Recurrent respiratory infections, Congestive heart failure, Aortic valve stenosis,...	OMIM:182250
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia	ORPHA:534
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Respiratory failure, Hydrops fetalis, Polyhydramnios	OMIM:300868
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato...	ORPHA:647
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Polyhydramnios, Asplenia, Total anomalous pulmonar...	OMIM:306955
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Oligohydramnios	ORPHA:177907
Ramos-Arroyo Syndrome	Respiratory distress, Xerostomia	ORPHA:1051
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Pulmonary artery stenosis, Hepatosplenomegaly, Restrictive ventilatory defect, Re...	ORPHA:96334
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Upper eyel...	OMIM:616268
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure	OMIM:618252
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Athetosis, Dysmetria	OMIM:615273
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Recurrent upper respi...	OMIM:114290
Adnp Syndrome	Respiratory distress, Aspiration, Recurrent upper respiratory tract infections	ORPHA:404448
Ulbright-Hodes Syndrome	Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios	ORPHA:3404
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Generalized Arterial Calcification Of Infancy	Respiratory distress, Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, Hyd...	ORPHA:51608
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema	OMIM:224690
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p...	OMIM:614748
Rubinstein-Taybi Syndrome 1	Respiratory distress, Accessory spleen, Polyhydramnios, Respiratory tract infection, Unsteady gai...	OMIM:180849
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure	ORPHA:2636
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea, Oligohydramnios	ORPHA:3206
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Transient ischemic attack, Respiratory failure, Ischemic stroke, Emphysema	ORPHA:500150
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Splenomegaly, Polyhydramnios	OMIM:617088
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis, Oligohydramnios	ORPHA:2255
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ...	ORPHA:95455
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:304120
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:798
8Q24.3 Microdeletion Syndrome	Respiratory distress, Abnormal lung lobation, Gastrointestinal hemorrhage, Oligohydramnios	ORPHA:508488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Pulmonary hypoplasia	ORPHA:83617
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections, Dif...	ORPHA:480880
Doors Syndrome	Respiratory distress, Polyhydramnios, Aspiration pneumonia	ORPHA:79500
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Lymphangioma, Recurrent pneumonia, Waddling gait	ORPHA:99646
Pmm2-Cdg	Respiratory distress, Pericarditis, Angina pectoris, Ataxia, Lymphedema, Pericardial effusion, In...	ORPHA:79318
Alström Syndrome	Respiratory distress, Ataxia, Portal hypertension, Congestive heart failure, Splenomegaly, Recurr...	ORPHA:64

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 Elk3

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 Elk3.

No publications found that use IMPC mice or data for Elk3.

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.

MGI Allele	Allele Type	Produced
Elk3^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Elk3^em1(IMPC)Ics	Deletion	Mice

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Elk3 MGI:101762

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Elk3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data