Gene: Tnni3 MGI:98783

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

troponin I, cardiac 3

Synonyms:

cTnI, Tn1, cardiac troponin I

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 Tnni3 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 Tnni3 (6 diseases)
Human diseases predicted to be associated with Tnni3 (755 diseases)

The table below shows human diseases associated to Tnni3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 2A	Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula...	OMIM:611880
Cardiomyopathy, Dilated, 1Ff	Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract...	OMIM:613286
Familial Isolated Restrictive Cardiomyopathy	Interstitial cardiac fibrosis, Recurrent respiratory infections, Dyspnea, Mitral regurgitation, L...	ORPHA:75249
Cardiomyopathy, Familial Restrictive, 1	Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy	OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 7	Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular hypertrophy	OMIM:613690
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Myopathy	ORPHA:154

The table below shows human diseases predicted to be associated to Tnni3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Left ventricular noncompaction, Respiratory distress,...	OMIM:613642
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 15	Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L...	OMIM:613255
Cardiomyopathy, Dilated, 1R	Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent...	OMIM:613424
Left Ventricular Noncompaction 10	Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur...	OMIM:615396
Cardiomyopathy, Dilated, 1M	Reduced left ventricular ejection fraction, Impaired myocardial contractility, Congestive heart f...	OMIM:607482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b...	OMIM:601493
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati...	OMIM:615373
Cardiomyopathy, Dilated, 1Bb	Dyspnea, Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestiv...	OMIM:612877
Cardiomyopathy, Dilated, 2A	Cardiomyocyte hypertrophy, Myofiber disarray, Congestive heart failure, Increased left ventricula...	OMIM:611880
Cardiomyopathy, Dilated, 1L	Reduced left ventricular ejection fraction, Sudden cardiac death, Reduced systolic function, Cong...	OMIM:606685
Cardiomyopathy, Dilated, 1Ee	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Congestive heart failure...	OMIM:613252
Cardiomyopathy, Dilated, 1Ff	Increased left ventricular end-diastolic volume, Severely reduced left ventricular ejection fract...	OMIM:613286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Calf muscle hypertrophy, Cardiomyopathy, EMG: myopathic abnormalities, Scapular winging, Increase...	OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at...	OMIM:608751
Congenital Myopathy 8	Respiratory insufficiency, Type 1 muscle fiber predominance, Weakness of facial musculature, Musc...	OMIM:618654
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First...	OMIM:613694
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1P	Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ...	OMIM:604765
Cardiomyopathy, Dilated, 1Hh	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Bronchopulmonary Dysplasia	Dyspnea, Abnormal respiratory system physiology, Atelectasis, Respiratory failure requiring assis...	ORPHA:70589
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation...	OMIM:604169
Atrial Standstill	Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus...	ORPHA:1344
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Proximal amyotrophy, Fourth heart sound, Right axis deviation, Restr...	OMIM:255160
Congenital Myopathy 5 With Cardiomyopathy	Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul...	OMIM:611705
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Cardiomyopathy, Dilated, 1Kk	Mitral regurgitation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Congestive heart...	OMIM:615248
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Congestive heart failure, Dilated cardiomyopathy, Ventricular ...	OMIM:600884
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a...	OMIM:613697
Familial Progressive Cardiac Conduction Defect	Dyspnea, Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure	ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 14	Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction...	OMIM:613251
Familial Dilated Cardiomyopathy	Dyspnea, Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ej...	ORPHA:217607
Cardiomyopathy, Dilated, 1K	Gallop rhythm, Congestive heart failure, Dilated cardiomyopathy	OMIM:605582
Loeffler Endocarditis	Dyspnea, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, ...	ORPHA:75566
Hereditary Myopathy With Early Respiratory Failure	Dyspnea, Muscle fiber splitting, Restrictive ventilatory defect, Respiratory insufficiency due to...	ORPHA:178464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Dyspnea, Right ventricular cardiomyopathy, Syncope, Palpitations, Sudden cardiac death, Ventricul...	OMIM:610476
Combined Oxidative Phosphorylation Deficiency 8	Reduced left ventricular ejection fraction, Pulmonary hypoplasia, Neonatal death, Congestive hear...	OMIM:614096
Cardiomyopathy, Familial Hypertrophic, 11	Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Dyspnea, Atrial septal d...	OMIM:612098
Long Qt Syndrome 13	Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po...	OMIM:613485
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Respirator...	OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis	OMIM:192600
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Abnormality of the shoulder girdle musculature, Absent muscle dystr...	ORPHA:206546
Incessant Infant Ventricular Tachycardia	Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc...	ORPHA:45453
Atrial Septal Defect, Sinus Venosus Type	Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricular arrhyt...	ORPHA:99105
Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure, Respiratory failure, Respiratory failure requiri...	ORPHA:132
Lethal Infantile Mitochondrial Myopathy	Neonatal respiratory distress, Cardiomyopathy, Lethargy	ORPHA:254857
Complete Atrioventricular Septal Defect	Intercostal retractions, Right bundle branch block, Pulmonary venous hypertension, Complete atrio...	ORPHA:1329
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Left ventricular hypertrophy, Cough, Type 1 muscle fiber predominance, Cardiomyopathy, M...	ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Respiratory failure, Ragged-red muscle fibers	OMIM:616794
Cardiomyopathy, Dilated, 1D	Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom...	OMIM:601494
Fixed Subaortic Stenosis	Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At...	ORPHA:3092
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Camptodactyly, Neonatal death, Stillbirth, Respiratory distress,...	OMIM:619751
Cardiomyopathy, Familial Hypertrophic, 4	Cardiac arrest, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Transient is...	OMIM:115197
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Cardiomyopathy, Dilated, 2B	Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation, Reduced left ventricular e...	OMIM:614672
Peripartum Cardiomyopathy	Myocarditis, Reduced left ventricular ejection fraction, Respiratory failure, Paroxysmal dyspnea,...	ORPHA:563
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Lethargy, Myopathy	ORPHA:26792
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Asymmetric septal hypertrophy, Cardiomyocyte hypertrophy, Dyspnea, Mitral regurgitation, Increase...	OMIM:620236
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory insufficiency due to muscle weakness, Respiratory distress, Hypertrophic cardiomyopat...	OMIM:613561
Classic Multiminicore Myopathy	Intermittent episodes of respiratory insufficiency due to muscle weakness, Absent muscle fiber me...	ORPHA:324604
Carnitine Deficiency, Systemic Primary	Mitral regurgitation, Myopathy, Cardiomyopathy, Excessive daytime somnolence, Reduced muscle carn...	OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 27	Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp...	OMIM:618052
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S...	OMIM:604400
Coronary Arterial Fistula	Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ...	ORPHA:2041
Congenital Left Ventricular Aneurysm	Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Apnea, Abnormal ST segment, Cong...	ORPHA:1055
Cardiomyopathy, Dilated, 1O	Ventricular tachycardia, Impaired myocardial contractility, Congestive heart failure, Dilated car...	OMIM:608569
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Respiratory insufficiency, Skeletal muscle atrophy, Apnea, Sleep ap...	OMIM:618228
Benign Samaritan Congenital Myopathy	Lethargy, Abnormal respiratory system physiology, Internally nucleated skeletal muscle fibers, Ce...	ORPHA:324581
Pleural Mesothelioma	Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Respiratory d...	ORPHA:50251
Cardiomyopathy, Familial Hypertrophic, 16	Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Reduced left ventricular ejectio...	OMIM:613838
Cardiomyopathy, Dilated, 1G	Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction...	OMIM:604145
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Reduced left ventricular ejection fraction, Distal lower limb muscle weakness, Achilles tendon co...	OMIM:181350
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Shoulder...	ORPHA:2596
Gaucher Disease Type 2	Cardiac arrest, Recurrent respiratory infections, Cough, Respiratory distress, Abnormal pattern o...	ORPHA:77260
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory di...	OMIM:605809
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Arrhythmia, Hypertension, Pulmonary embolism, Abnormal heart valve morphology, Congestive heart f...	ORPHA:1345
Ventricular Septal Defect 1	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,...	OMIM:614429
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Myopathy, Arrhythmia, Hypertension,...	OMIM:540000
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Lower-limb joint contracture, Skeletal muscle atrophy	OMIM:613710
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Ty...	OMIM:254210
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Restrictive ventilatory defect, Arrhythmia, Cardiomyopathy, Respiratory insufficien...	OMIM:310200
Congenital Muscular Dystrophy Due To Lmna Mutation	Myopathy, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, Congestive heart failur...	ORPHA:157973
Congenital Pulmonary Lymphangiectasia	Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Chylope...	ORPHA:2414
Staphylococcal Necrotizing Pneumonia	Dyspnea, Tachypnea, Hypotension, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pul...	ORPHA:36238
Atrial Septal Defect, Ostium Primum Type	Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re...	ORPHA:99106
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Weakness of facial musculature, Cardiomyopathy, EMG: myopathic ab...	ORPHA:399103
Cardiogenic Shock	Cardiac arrest, Abnormal EKG, ST segment elevation, Reduced consciousness/confusion, Mitral regur...	ORPHA:97292
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Distal arthrogryposis, Fiber type grouping, Paradoxical respiration, Wrist drop, Plantar flexion ...	OMIM:620011
Hemochromatosis, Type 2A	Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Lethargy	OMIM:602390
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp...	OMIM:612158
Mitochondrial Complex I Deficiency, Nuclear Type 30	Congestive heart failure, Neonatal death	OMIM:301021
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory insufficiency, Skeletal muscle atrophy, Respiratory distress, Increased variability i...	ORPHA:238329
Recurrent Respiratory Papillomatosis	Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Syncope, Nonproductiv...	ORPHA:60032
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Restrictive ventilatory defect, Respiratory insufficiency, EMG: myopathi...	OMIM:614399
Desminopathy	Concentric hypertrophic cardiomyopathy, Distal lower limb muscle weakness, Respiratory insufficie...	ORPHA:98909
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Dyspnea, Global systolic dysfunction, Respiratory insufficiency, Cardiomyopathy, Nemaline bodies,...	OMIM:606842
Congenital Heart Defects, Multiple Types, 2	Tetralogy of Fallot, Ventricular septal defect, Left ventricular outflow tract obstruction, Subva...	OMIM:614980
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi...	ORPHA:45452
Cardiomyopathy, Dilated, 1Oo	Reduced left ventricular ejection fraction, Atrial septal defect, Second degree atrioventricular ...	OMIM:620247
Cardiomyopathy, Dilated, 2F	Ventricular tachycardia, Severely reduced left ventricular ejection fraction, Congestive heart fa...	OMIM:619747
Interstitial Pneumonitis, Desquamative, Familial	Type II pneumocyte hypertrophy, Tachypnea, Desquamative interstitial pneumonitis, Cough, Respirat...	OMIM:263000
Immune-Mediated Necrotizing Myopathy	Myocarditis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, Myopathy, Palpitations,...	ORPHA:206569
Cardiomyopathy, Dilated, 1Nn	Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive...	OMIM:615916
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Left ventricular hypertrophy, Ventricular hypertrophy, Apnea, Congestive heart failure, Bradycardia	OMIM:619048
Congenital Gerbode Defect	Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, ...	ORPHA:99095
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction	ORPHA:141152
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Confusion, Coma	OMIM:237310
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Macroglossia, Ventilator dependence with inability to wean, Myopathy, Increased muscle glycogen c...	ORPHA:254864
Cardiomyopathy, Dilated, 1S	Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r...	OMIM:613426
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ...	ORPHA:300751
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Ventricular septal defect, Atrial septal defect, Congestive heart failure, Lethar...	ORPHA:49827
Danon Disease	Ventricular tachycardia, Lower limb amyotrophy, Wolff-Parkinson-White syndrome, Syncope, Severely...	OMIM:300257
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Palpitations, Hypoglycemic coma, Lethargy, Hypertrophic cardiomyopathy, Tachycardia, Los...	ORPHA:276556
Isolated Right Ventricular Hypoplasia	Dyspnea, Systolic heart murmur, Right ventricular failure, Atrial septal defect, Hypoxemia, Right...	ORPHA:439
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal pulmonary valve morphology, Abnormality of blood circulation, Abnormal ventriculoarteria...	ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 6	Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa...	OMIM:600858
Combined Oxidative Phosphorylation Deficiency 23	Arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:616198
Acquired Methemoglobinemia	Dyspnea, Syncope, Palpitations, Arrhythmia, Hypoxemia, Respiratory distress, Confusion, Tachycard...	ORPHA:464453
Attrv122I Amyloidosis	Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Arrhythmi...	ORPHA:85451
Immunodeficiency 95	Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa...	OMIM:619773
X-Linked Centronuclear Myopathy	Recurrent respiratory infections, Weakness of facial musculature, Necklace skeletal muscle fibers...	ORPHA:596
Atrial Septal Defect, Ostium Secundum Type	Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri...	ORPHA:99103
Polymyositis	Vasculitis, Respiratory insufficiency, Arrhythmia, Cough, Abnormal mitral valve morphology, Pulmo...	ORPHA:732
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure	ORPHA:2022
Carnitine Palmitoyl Transferase 1A Deficiency	Arrhythmia, Skeletal muscle atrophy, Sudden cardiac death, Hypertrophic cardiomyopathy, Lethargy,...	ORPHA:156
Familial Atrial Myxoma	Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Congestive heart failure,...	ORPHA:615
Sudden Cardiac Failure, Infantile	Myocarditis, Myocardial fibrosis, Sudden cardiac death, Congestive heart failure, Hypertrophic ca...	OMIM:617222
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Palpitations, Hypoglycemic coma, Lethargy, Hypertrophic cardiomyopathy, Tachycardia, Los...	ORPHA:276575
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dyspnea, Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopa...	ORPHA:1349
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Cardiorespi...	OMIM:212138
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Generalized amyotrophy, Lethargy, Apneic episodes in infancy	OMIM:610006
Familial Dyskinesia And Facial Myokymia	Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia	ORPHA:324588
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Palpitations, Hypoglycemic coma, Lethargy, Hypertrophic cardiomyopathy, Tachycardia, Los...	ORPHA:276580
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro...	OMIM:616117
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy	OMIM:619099
Cardiomyopathy, Dilated, 1A	Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ...	OMIM:115200
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e...	ORPHA:444013
Scimitar Syndrome	Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Abn...	ORPHA:185
Hereditary Pulmonary Alveolar Proteinosis	Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, Respiratory di...	ORPHA:264675
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Myopathy, Irregular respiration, Respiratory distress, Myofiber disarray, Increas...	OMIM:604377
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Ventricular tachycardia, Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventri...	OMIM:607450
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Cardiomyopathy, Familial Hypertrophic, 26	Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge...	OMIM:617047
Febrile Infection-Related Epilepsy Syndrome	Cough, Sinusitis, Lethargy	ORPHA:163703
Perching Syndrome	Respiratory distress, Camptodactyly, Joint contracture	OMIM:617055
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Secundum atrial septal defect, Arthrogryposis multiplex congenita,...	OMIM:616866
Aortic Arch Interruption	Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,...	ORPHA:2299
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy, Cardiomegaly, Lethargy, Respiratory arrest	OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618234
Surfactant Metabolism Dysfunction, Pulmonary, 3	Desquamative interstitial pneumonitis, Usual interstitial pneumonia, Hypoxemia, Respiratory failu...	OMIM:610921
Sandhoff Disease	Recurrent respiratory infections, Congestive heart failure	ORPHA:796
Mitochondrial Complex I Deficiency, Nuclear Type 3	Respiratory insufficiency, Lethargy	OMIM:618224
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Cardiomegaly, Lethargy, Los...	ORPHA:42
Idiopathic Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Tricuspid regurgitation, Right v...	ORPHA:275766
Babesiosis	Respiratory insufficiency, Cough, Congestive heart failure, Confusion, Myocardial infarction, Rec...	ORPHA:108
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy, Confusion	OMIM:606777
Mitochondrial Trifunctional Protein Deficiency	Rhabdomyolysis, Mitral regurgitation, Left ventricular hypertrophy, Respiratory insufficiency, Ar...	ORPHA:746
Typhoid	Cardiac arrest, Cough, Arrhythmia, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial m...	ORPHA:99745
Multiple Carboxylase Deficiency	Respiratory distress, Tachypnea, Lethargy, Coma, Limb muscle weakness	ORPHA:148
Ebstein Malformation Of The Tricuspid Valve	Right bundle branch block, Abnormal endocardium morphology, Atrial septal defect, Respiratory ins...	ORPHA:1880
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy...	OMIM:267450
Cardiomyopathy, Familial Hypertrophic, 10	Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Pa...	OMIM:608758
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Asbestos Intoxication	Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur...	ORPHA:2302
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy	OMIM:605676
Neurogenic Arthrogryposis Multiplex Congenita	Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Knee flexion contra...	ORPHA:1143
Developmental And Epileptic Encephalopathy 40	Lethargy, Hyaline membranes	OMIM:617065
Nipah Virus Disease	Hypotension, Cough, Respiratory distress, Recurrent pharyngitis, Coma	ORPHA:99825
Mitochondrial Trifunctional Protein Deficiency 1	Rhabdomyolysis, Myopathy, Respiratory insufficiency, Arrhythmia, Congestive heart failure, Respir...	OMIM:609015
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Pulmonary hypoplasia, Hypoxemia, Respiratory distress, Conge...	ORPHA:2140
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Pulmonary hypoplasia, Hypertension, Respiratory distress, Flexion c...	OMIM:616733
Cirrhotic Cardiomyopathy	Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l...	ORPHA:57777
Surfactant Metabolism Dysfunction, Pulmonary, 2	Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail...	OMIM:610913
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachypnea, Tachycardia, Ventricular sep...	ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Dyspnea, Reduced left ven...	OMIM:613243
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurrent lower respiratory tract i...	OMIM:620233
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Hyperventilation, Lethargy, Apnea, Tachycardia, Coma	OMIM:229700
Maternally-Inherited Diabetes And Deafness	Arrhythmia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:225
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Infant Acute Respiratory Distress Syndrome	Cardiac arrest, Hypotension, Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema...	ORPHA:70587
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Ankle flexion contracture, Lethargy, Dilated cardiomyopathy	OMIM:618120
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypotension, Myo...	OMIM:261740
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc...	OMIM:619466
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Cardiomyopathy, Lethargy, Coma	ORPHA:79312
Familial Cutaneous Collagenoma	Cardiomyopathy, Angina pectoris, Congestive heart failure, Atrial septal defect	ORPHA:53296
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Delirium, Drowsiness, Respiratory distress, Cerebral ischemia, Confusion, Lethargy, Loss of consc...	ORPHA:927
Interstitial Lung Disease 2	Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i...	OMIM:178500
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Confusion	OMIM:617900
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Aorto-Ventricular Tunnel	Abnormal heart valve morphology, Heart murmur, Congestive heart failure, Ventricular hypertrophy	ORPHA:3400
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Tachypnea, Respiratory insufficiency, Respiratory distress, Respiratory failure, Dilated cardiomy...	OMIM:614299
Absence Of The Pulmonary Artery	Reduced left ventricular ejection fraction, Atrial septal defect, Tetralogy of Fallot, Abnormal h...	ORPHA:980
Cardiac Valvular Dysplasia, X-Linked	Short chordae tendineae of the mitral valve, Mitral regurgitation, Aortic regurgitation, Tricuspi...	OMIM:314400
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ventilator dependence with inability to wean, Spinal muscular atrophy, Myopathy, Respiratory insu...	ORPHA:254875
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co...	OMIM:234810
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Left ventricular hypertrophy, Respiratory failure requiring assisted ventilation, L...	ORPHA:308552
Idiopathic Bronchiectasis	Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou...	ORPHA:60033
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Cough, Hypertension, Pu...	OMIM:178600
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force...	ORPHA:1303
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy, Confusion, Central apnea	ORPHA:71277
Evans Syndrome	Syncope, Epistaxis, Lethargy, Dyspnea	ORPHA:1959
Cardiomyopathy, Familial Hypertrophic, 17	Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hy...	OMIM:613873
Wild Type Abeta2M Amyloidosis	Macroglossia, Abnormality of the thenar eminence, Abnormal tendon morphology, Arrhythmia, Gastroi...	ORPHA:85446
Scrub Typhus	Myocarditis, Reduced consciousness/confusion, Dyspnea, Hypotension, Restrictive ventilatory defec...	ORPHA:83317
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Tachypnea, Reduced left ventricular ejection fraction, Sudden ca...	OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 2	Mitral regurgitation, Reduced left ventricular ejection fraction, Sinus tachycardia, Hypertension...	OMIM:614473
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Lethargy, Hypoglycemic coma, Tachycardia, Loss of consciousness, Drowsiness	ORPHA:324575
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Breathing dysregulation, Hypoventilation, Neonatal death	OMIM:618232
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Hypertrophic cardiomyopathy	OMIM:246900
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Bradykinesia, Axial muscle stiffness	ORPHA:240085
Infantile-Onset X-Linked Spinal Muscular Atrophy	Spinal muscular atrophy, Respiratory insufficiency, Weakness of facial musculature, Inflammatory ...	ORPHA:1145
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Respiratory failure, Hypertrophic cardiomyopathy	OMIM:619386
Naxos Disease	Arrhythmia, Cardiomyopathy, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricula...	ORPHA:34217
Pulmonary Non-Tuberculous Mycobacterial Infection	Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pericardial ...	ORPHA:411703
Cardiomyopathy, Dilated, 1Y	Ventricular tachycardia, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Con...	OMIM:611878
Sick Sinus Syndrome 2	Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro...	OMIM:163800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Lethargy, Coma, Drowsiness	ORPHA:276608
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Confusion	OMIM:613002
Avian Influenza	Rhabdomyolysis, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Resp...	ORPHA:454836
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Meconium Aspiration Syndrome	Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Atelectas...	ORPHA:70588
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Vitamin B12-Responsive Methylmalonic Acidemia	Respiratory insufficiency, Lethargy, Coma	ORPHA:28
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Hypertension, Congestive heart failure	OMIM:615703
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Ventricular tachycardia, Hypotension, Respiratory insufficiency, Arrhythmia, Card...	ORPHA:159
Wild Type Attr Amyloidosis	Abnormal EKG, Pleural effusion, Arrhythmia, Myocardial infarction, Pulmonary edema, Congestive he...	ORPHA:330001
Naxos Disease	Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car...	OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 2	Right bundle branch block, Dyspnea, Reduced left ventricular ejection fraction, Angina pectoris, ...	OMIM:115195
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Central sleep apnea, Abnormal heart morphology, Obstructive sleep apnea, Congestive heart failure...	ORPHA:70472
Acute Lung Injury	Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Pneumonia, Shoc...	ORPHA:178320
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Weakness of muscles of respiration, Cardiomyopathy, EMG: myopathic abnormalities, Fatty replaceme...	ORPHA:52430
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Lethargy, Cardiomegaly	OMIM:619064
Severe Acute Respiratory Syndrome	Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea...	ORPHA:140896
Citrullinemia Type I	Torticollis, Tachypnea, Lethargy, Loss of consciousness, Coma	ORPHA:247525
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Myopathy, Respiratory insufficiency, Skeletal muscle atrophy, Respiratory distress, Portal hypert...	ORPHA:367
Long Qt Syndrome 15	Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige...	OMIM:616249
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Congestive heart failur...	OMIM:610198
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Familial Isolated Restrictive Cardiomyopathy	Interstitial cardiac fibrosis, Recurrent respiratory infections, Dyspnea, Mitral regurgitation, L...	ORPHA:75249
Vitamin B12-Unresponsive Methylmalonic Acidemia	Respiratory insufficiency, Cardiomyopathy, Lethargy, Coma	ORPHA:27
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Camptodactyly of finger, Arrhythmia, Abnormal aortic valve m...	ORPHA:1194
Laryngotracheal Angioma	Intercostal retractions, Cough, Apnea, Respiratory distress, Stridor, Wheezing	ORPHA:137935
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Facial myokymia, Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia	OMIM:606703
Acquired Aneurysmal Subarachnoid Hemorrhage	Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope, Ischemic stro...	ORPHA:90065
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Neonatal respiratory distress, Wheezing, Atelectasis, Ventricul...	OMIM:610978
Pontocerebellar Hypoplasia, Type 6	Elbow contracture, Lethargy, Apnea	OMIM:611523
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Klippel-Trénaunay Syndrome	Atrial septal defect, Respiratory insufficiency, Pulmonary embolism, Abnormal tricuspid valve mor...	ORPHA:90308
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Decreased DLCO, Restr...	OMIM:616414
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Hemochromatosis, Type 2B	Cardiomyopathy, Congestive heart failure	OMIM:613313
Familial Nasal Acilia	Chronic sinusitis, Dyspnea, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ...	ORPHA:922
Pulmonary Hypertension, Primary, 5	Pulmonary arterial hypertension, Syncope, Right ventricular hypertrophy, Angina pectoris, Right v...	OMIM:265400
Anaplastic Thyroid Carcinoma	Dyspnea, Abnormal skeletal muscle morphology, Cough, Neoplasm of the lung, Upper airway obstructi...	ORPHA:142
Cyclic Vomiting Syndrome	Cardiomyopathy, Lethargy	OMIM:500007
Congenitally Corrected Transposition Of The Great Arteries	Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa...	ORPHA:216694
Propionic Acidemia	Limb hypertonia, Cardiomyopathy, Apnea, Tachypnea, Lethargy, Cerebellar hemorrhage, Coma	OMIM:606054
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ...	ORPHA:99050
Congenital Tricuspid Stenosis	Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Tricuspid regurgitation, Co...	ORPHA:95459
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Cardiac Diverticulum	Abnormality of the diaphragm, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo...	ORPHA:1686
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea, Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic reg...	OMIM:616501
Idiopathic/Heritable Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure...	ORPHA:422
Mercury Poisoning	Dyspnea, Hypotension, Hypertension, Respiratory distress, Respiratory failure, Confusion, Interst...	ORPHA:330021
Atransferrinemia	Congestive heart failure	OMIM:209300
Combined Oxidative Phosphorylation Deficiency 11	Myopathy, Cardiomyopathy, Neonatal death, Stillbirth, Respiratory failure, Lethargy	OMIM:614922
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Cardiomyocyte hypertrophy, Shoulder girdle muscle ...	ORPHA:263297
Cryptogenic Organizing Pneumonia	Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo...	ORPHA:1302
Histiocytoid Cardiomyopathy	Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Loss of consc...	ORPHA:137675
Malaria	Respiratory distress, Reduced consciousness/confusion	ORPHA:673
Idiopathic Congenital Hypothyroidism	Bradycardia, Macroglossia, Lethargy	ORPHA:95717
Pyruvate Dehydrogenase E3 Deficiency	Cardiomyopathy, Lethargy, Abnormal cardiac ventricular function	ORPHA:2394
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Apnea	OMIM:618225
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Recurrent respiratory infections, Dextrocardia, Respiratory distress, Sin...	OMIM:606763
Aneurysm Of Sinus Of Valsalva	Dyspnea, Bacterial endocarditis, Cough, Aortic regurgitation, Congestive heart failure, Heart murmur	ORPHA:1054
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Interstitial Lung Disease 1	Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Interlob...	OMIM:619611
Hyperlysinuria With Hyperammonemia	Lethargy, Coma	OMIM:238750
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Dyspnea, Fibrofatty...	OMIM:609040
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Neonatal death	OMIM:610498
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Cerebral hemorrhage, Acute respiratory distress syndrome, Respirat...	OMIM:617397
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Respiratory distress, Lethargy, Cerebellar hemorrhage, Coma	OMIM:251000
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Dyspnea, Mitral regurg...	ORPHA:66529
American Trypanosomiasis	Myocarditis, Dyspnea, Cough, Arrhythmia, Cardiomyopathy, Congestive heart failure	ORPHA:3386
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Facial paralysis, Respiratory insufficiency, Neonatal death, Res...	OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Left ventricular hypertrophy	OMIM:616974
Myotonic Dystrophy 1	Facial diplegia, Excessive daytime somnolence, First degree atrioventricular block, Respiratory d...	OMIM:160900
Laubry-Pezzi Syndrome	Right ventricular outlet tract obstruction, Subarterial ventricular septal defect, Ventricular se...	ORPHA:99094
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D...	ORPHA:79127
Synaptic Congenital Myasthenic Syndromes	Neonatal respiratory distress, Pulmonary arterial hypertension, Myopathy, Respiratory insufficien...	ORPHA:98915
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Inhalational Anthrax	Dyspnea, Hypotension, Respiratory distress, Confusion, Internal hemorrhage	ORPHA:247257
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Lethargy, Coma	ORPHA:289916
Succinic Acidemia	Respiratory distress	OMIM:600335
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141179
Hyperkalemic Periodic Paralysis	Myopathy, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, Skeletal muscle hypertr...	ORPHA:682
Thyroid Dyshormonogenesis 1	Macroglossia, Lethargy	OMIM:274400
Ethylene Glycol Poisoning	Tachypnea, Hypotension, Tachycardia, Hypertension, Drowsiness, Pulmonary edema, Facial palsy, Con...	ORPHA:31826
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Lethargy	OMIM:616483
Ogden Syndrome	Torticollis, Ventricular septal defect, Arrhythmia, Cardiogenic shock, Excessive daytime somnolen...	ORPHA:276432
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Congestive heart failure, Facial hypotonia, Atrial septal defect	ORPHA:500533
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Lethargy, Respiratory failure	OMIM:312170
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Vasculitis, Recurrent intrapulmonary hemorrhage, Abnormal pericardium morphology, En...	ORPHA:183
Mitochondrial Complex I Deficiency, Nuclear Type 5	Respiratory insufficiency, Lethargy, Apnea	OMIM:618226
Severe Canavan Disease	Lethargy	ORPHA:314911
Maternal Uniparental Disomy Of Chromosome X	Flexion contracture, Camptodactyly of finger, Congestive heart failure	ORPHA:261519
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Exertional dyspnea	ORPHA:90037
Refsum Disease, Classic	Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness	OMIM:266500
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia, Cardiomegaly, Lethargy, Coma	OMIM:255120
Pseudoxanthoma Elasticum	Decreased DLCO, Hypertension, Intermittent claudication, Weak pulse, Angina pectoris, Restrictive...	OMIM:264800
Dk1-Cdg	Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Arrhythmia, Congestive heart failure, D...	ORPHA:91131
Diffuse Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Dyspnea, Pulmonary fibrosis, Congestive heart failure, Telangiec...	ORPHA:220393
Fabry Disease	Left ventricular hypertrophy, Arrhythmia, Hypertension, Airway obstruction, Transient ischemic at...	OMIM:301500
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Dyspnea, Restrictive ventilatory defect, Cough, Abnormal pleura morphology, Abnormal breath sound...	ORPHA:210136
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Apnea, Shock, Bradycardia, Lethargy	ORPHA:391673
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin	ORPHA:141184
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mitral regurgitation, Tricuspid regurgitation, Atrial flutter, Aortic valve stenosis, Congestive ...	ORPHA:324410
Meningococcal Meningitis	Reduced consciousness/confusion, Neonatal respiratory distress, Hypotension, Shock, Lethargy, Dro...	ORPHA:33475
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Myopathy, Weakness of facial musculature, Cardiomyopathy, Flexion contracture, Lethargy	OMIM:201470
Holocarboxylase Synthetase Deficiency	Respiratory distress, Lethargy, Tachypnea, Coma	ORPHA:79242
Eisenmenger Syndrome	Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocarditis, Hyp...	ORPHA:97214
Cocaine Intoxication	Prolonged QRS complex, Hyperventilation, Supraventricular arrhythmia, Pneumothorax, Myocardial in...	ORPHA:90068
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Dyspnea, Cough, Pleural empyema, Congestive heart failure, Abnormal pericardium mor...	ORPHA:67
Hemochromatosis, Type 1	Arrhythmia, Cardiomyopathy, Telangiectasia, Congestive heart failure, Pleural effusion, Cardiomegaly	OMIM:235200
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Mulibrey Nanism	Recurrent lower respiratory tract infections, Congestive heart failure, Pericardial constriction,...	OMIM:253250
Collagenoma, Familial Cutaneous	Vasculitis, Right ventricular cardiomyopathy, Cardiomyopathy, Tricuspid regurgitation, Congestive...	OMIM:115250
Congenital Tracheomalacia	Intercostal retractions, Ventricular septal defect, Atrial septal defect, Productive cough, Tetra...	ORPHA:95430
Chronic Thromboembolic Pulmonary Hypertension	Pulmonary arterial hypertension, Abnormal T-wave, Reduced FEV1/FVC ratio, Central sleep apnea, Sy...	ORPHA:70591
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Myopathy, Neonatal death, Respiratory distress, Centrally nucleated skeletal muscle ...	OMIM:300219
Multiple Acyl-Coa Dehydrogenase Deficiency	Rhabdomyolysis, Dyspnea, Restrictive ventilatory defect, Arrhythmia, Cardiomyopathy, Skeletal mus...	ORPHA:26791
Autosomal Dominant Progressive External Ophthalmoplegia	Shoulder girdle muscle weakness, Reduced left ventricular ejection fraction, Hypomimic face, Resp...	ORPHA:254892
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Pulmonary arterial hypertension, Lethargy, Tachypnea	OMIM:614857
Autoimmune Hemolytic Anemia	Arrhythmia, Dyspnea, Congestive heart failure	ORPHA:98375
Barth Syndrome	Arrhythmia, Skeletal myopathy, Tricuspid regurgitation, Congestive heart failure, Increased left ...	OMIM:302060
Partial Atrioventricular Septal Defect	Hypoplastic left heart, Tetralogy of Fallot, Bacterial endocarditis, Transient ischemic attack, A...	ORPHA:1330
Combined Oxidative Phosphorylation Deficiency 20	Respiratory insufficiency, Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Progressive Familial Heart Block, Type Ia	Left anterior fascicular block, Dyspnea, Syncope, Sudden cardiac death, Prolonged PR interval, Le...	OMIM:113900
Chronic Pneumonitis Of Infancy	Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced...	ORPHA:91359
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormality of the calf musculature, Dyspnea, Arrhythmia, Palpitations, Cardiomyopathy, Low-outpu...	ORPHA:565612
Fructose-1,6-Bisphosphatase Deficiency	Reduced consciousness/confusion, Intermittent hyperventilation, Dyspnea, Excessive daytime somnol...	ORPHA:348
Dengue Fever	Hypotension, Cerebral hemorrhage, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Epistaxi...	ORPHA:99828
Oculopharyngodistal Myopathy 1	Aspiration, Hypercapnia, Paroxysmal atrial fibrillation, Autophagic vacuoles, Restrictive ventila...	OMIM:164310
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage, Coma	OMIM:243500
Methylcobalamin Deficiency Type Cble	Hypertension, Excessive daytime somnolence, Lower limb hypertonia, Lethargy, Loss of consciousnes...	ORPHA:2169
Hypoplastic Left Heart Syndrome 2	Mitral atresia, Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect	OMIM:614435
Craniofaciofrontodigital Syndrome	Macroglossia, Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Ventricular septal ...	ORPHA:363705
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Limb hypertonia	OMIM:233910
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Elevated jugular venous pressure, Arrhythmia, Cardiomyopathy, Portal hyper...	ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ...	OMIM:617228
Leigh Syndrome With Cardiomyopathy	Fluctuations in consciousness, Mitral regurgitation, Pulmonic stenosis, Apnea, Central hypoventil...	ORPHA:70474
Infantile Sialic Acid Storage Disease	Cardiomegaly, Congestive heart failure	OMIM:269920
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter...	ORPHA:79126
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia	ORPHA:1423
Encephalitis Lethargica	Hyperventilation, Upper limb muscle weakness, Bradycardia, Lethargy, Coma	ORPHA:83600
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d...	OMIM:265120
Colchicine Poisoning	Myocarditis, Reduced consciousness/confusion, Hypotension, Arrhythmia, Cardiorespiratory arrest, ...	ORPHA:31824
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Pulmonary fi...	OMIM:612387
Congenital Aortic Valve Stenosis	Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Dyspla...	ORPHA:3093
Tularemia	Cough, Respiratory distress, Pneumonia, Confusion, Pleural effusion, Tachycardia	ORPHA:3392
Cardiomyopathy, Familial Restrictive, 1	Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy	OMIM:115210
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Ventricular tachycardia, Hypercapnia, Abnormality of masseter mu...	ORPHA:423
Slc35A1-Cdg	Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia	ORPHA:238459
Pparg-Related Familial Partial Lipodystrophy	Myopathy, Hypertension, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Congestive he...	ORPHA:79083
Tetrasomy 5P	Recurrent respiratory infections, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdo...	ORPHA:3309
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Mitral regurgitation, Ventricular septal defect, Peripheral pulmonary artery stenosis, A...	OMIM:123700
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress, Congenital contracture	OMIM:615042
Primary Lipodystrophy	Myopathy, Cardiomyopathy, Hypertension, Skeletal muscle hypertrophy, Angina pectoris, Congestive ...	ORPHA:90970
Insulinoma	Reduced consciousness/confusion, Fluctuations in consciousness, Palpitations, Lethargy, Coma	ORPHA:97279
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Unroofed coronary sinus, Syncope...	ORPHA:99104
Familial Partial Lipodystrophy, Dunnigan Type	Myopathy, Skeletal muscle hypertrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Abn...	ORPHA:2348
Riboflavin Deficiency	Lethargy	OMIM:615026
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Tetralogy of Fallot	OMIM:250620
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Arr...	OMIM:608836
Congenital Disorder Of Glycosylation, Type Ie	Camptodactyly, Muscular dystrophy, Knee flexion contracture, Telangiectasia, Respiratory distress...	OMIM:608799
Familial Thyroid Dyshormonogenesis	Bradycardia, Macroglossia, Lethargy	ORPHA:95716
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Lethargy	OMIM:617105
Cholera	Hypovolemic shock, Aspiration pneumonia, Hypotension, Hyperventilation, Lethargy, Tachypnea, Tach...	ORPHA:173
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction, Abnormal capillary physiology	ORPHA:100057
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Left ventricular outflow tract obstruction, Respiratory insufficiency due to muscle ...	ORPHA:365
Pyruvate Dehydrogenase Deficiency	Dyspnea, Lethargy, Tachypnea	ORPHA:765
Tetanus	Hypertension, Respiratory distress, Tachypnea, Bradycardia, Tachycardia, Coma	ORPHA:3299
Brown-Vialetto-Van Laere Syndrome 1	Recurrent respiratory infections, Dyspnea, Respiratory insufficiency, Skeletal muscle atrophy, Re...	OMIM:211530
Mucopolysaccharidosis, Type Ii	Macroglossia, Abnormal heart valve morphology, Sleep apnea, Obstructive sleep apnea, Recurrent pn...	OMIM:309900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Hb Bart'S Hydrops Fetalis	Pericarditis, Congestive heart failure	ORPHA:163596
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Hypotension, Limb hypertonia, Cardiorespiratory arrest, Apnea, Lethargy	OMIM:608643
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy, Respiratory failure, Tachypnea, Coma	OMIM:615838
Hereditary Central Diabetes Insipidus	Lethargy	ORPHA:30925
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Hypertension, Congestive heart failure, Dilated cardiomyopathy, My...	OMIM:208000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia, Left ventricular systolic dysfunction, Mitral regurgitation, Left ventricul...	OMIM:619167
Aorta Coarctation	Pulmonary arterial hypertension, Hypoplastic left heart, Tetralogy of Fallot, Hypertension, Perim...	ORPHA:1457
Acyl-Coa Dehydrogenase 9 Deficiency	Myopathy, EMG: myopathic abnormalities, Sudden cardiac death, Congestive heart failure, Dilated c...	ORPHA:99901
Non-Functioning Paraganglioma	Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto...	ORPHA:94080
Central Diabetes Insipidus	Lethargy, Excessive daytime somnolence	ORPHA:178029
Kallmann Syndrome-Heart Disease Syndrome	Mitral regurgitation, Pulmonary artery hypoplasia, Aortic regurgitation, Pulmonary insufficiency,...	ORPHA:2326
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Bradykinesia	ORPHA:240103
Auriculocondylar Syndrome 2	Respiratory distress, Snoring, Apnea	OMIM:614669
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Respiratory distress, Acute infantile spinal muscular atrophy, Flexion con...	OMIM:271225
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Central Neurocytoma	Lethargy, Coma	ORPHA:73256
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Triosephosphate Isomerase Deficiency	Myopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Skeletal m...	OMIM:615512
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure, Exertional dyspnea	ORPHA:90033
Capillary Malformation-Arteriovenous Malformation	High-output congestive heart failure, Abnormal heart morphology, Telangiectasia, Cerebral ischemi...	ORPHA:137667
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Mucopolysaccharidosis-Plus Syndrome	Macroglossia, Recurrent respiratory infections, Atrial septal defect, Respiratory distress, Recur...	OMIM:617303
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Apnea, Coma	OMIM:210200
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy, Confusion, Coma	OMIM:238970
Pulmonary Capillary Hemangiomatosis	Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl...	ORPHA:199241
Congenital Myasthenic Syndrome	Intermittent episodes of respiratory insufficiency due to muscle weakness, Recurrent respiratory ...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Intermittent episodes of respiratory insufficiency due to muscle weakness, Recurrent respiratory ...	ORPHA:98914
Arterial Tortuosity Syndrome	Cardiac arrest, Myocarditis, Dyspnea, Telangiectasia of the skin, Hypertension, Cardiorespiratory...	ORPHA:3342
Fabry Disease	Dyspnea, Mitral regurgitation, Chronic pulmonary obstruction, Left ventricular hypertrophy, Respi...	ORPHA:324
Familial Idiopathic Dilatation Of The Right Atrium	Dyspnea, Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Pal...	ORPHA:1677
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ...	ORPHA:99125
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Pheochromocytoma--Islet Cell Tumor Syndrome	Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis...	OMIM:171420
Exercise-Induced Malignant Hyperthermia	Rhabdomyolysis, Abnormal T-wave, Hypotension, Delirium, Sinus tachycardia, Abnormal pulse pressur...	ORPHA:466650
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Tachypnea, Hypotension, Apnea, Dilated cardiomyopathy, Hypoglycemic coma, Letharg...	ORPHA:20
Ebola Hemorrhagic Fever	Dyspnea, Cough, Melena, Gastrointestinal hemorrhage, Lethargy	ORPHA:319218
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction, Situs inversus totalis	OMIM:612776
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Abnormal tendon morphology, Cough, Abnormal heart valve morphol...	ORPHA:579
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:611126
Mitochondrial Complex I Deficiency, Nuclear Type 37	Bradycardia, Pulmonary arterial hypertension, Skeletal muscle atrophy, Respiratory distress	OMIM:619272
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Neonatal death, Respiratory distress, Central apnea, Congestive ...	OMIM:616482
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia, Patent foramen ovale, Recurrent upper respiratory trac...	OMIM:607143
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Recurrent respiratory infections, Pulmonary arterial hypertension, Mitral regurgita...	ORPHA:505248
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Restrictive ventilatory defect, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, EMG: myo...	ORPHA:1900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Atrial Standstill 2	Atrial cardiomyopathy, Dyspnea, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, B...	OMIM:615745
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Lethargy, Coma, Drowsiness	ORPHA:263455
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Angina pectoris, Congestive heart failure	OMIM:176670
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Mitral regurgitation, Ventricular septal defect, Atrial septal def...	OMIM:620066
Aarskog-Scott Syndrome	Camptodactyly of finger, Congestive heart failure	ORPHA:915
Thyroid Lymphoma	Respiratory distress, Upper airway obstruction, Dyspnea, Stridor	ORPHA:97285
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Tracheomalacia, Abnormal pulmonary inters...	OMIM:617180
Susac Syndrome	Lethargy, Confusion	ORPHA:838
Biotinidase Deficiency	Hyperventilation, Apnea, Respiratory distress, Lethargy, Limb muscle weakness	ORPHA:79241
Holocarboxylase Synthetase Deficiency	Lethargy, Hyperventilation, Tachypnea, Coma	OMIM:253270
Dopa-Responsive Dystonia	Lethargy	ORPHA:255
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia, Macroglossia, Respiratory distress	ORPHA:226313
Idiopathic Intracranial Hypertension	Lethargy	ORPHA:238624
Neutral Lipid Storage Myopathy	Shoulder girdle muscle weakness, Myopathy, Hand muscle weakness, Cardiomyopathy, Fatty replacemen...	ORPHA:98908
Bacterial Toxic-Shock Syndrome	Myocarditis, Tachypnea, Hypotension, Myositis, Capillary leak, Respiratory tract infection, Respi...	ORPHA:36234
Cirrhosis, Familial	Pulmonary arterial hypertension, Hypertension, Lethargy	OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Skeletal muscle atrophy, Apnea...	OMIM:252010
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Lethargy, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Amoebiasis Due To Free-Living Amoebae	Arrhythmia, Respiratory tract infection, Sinusitis, Facial palsy, Pneumonia, Confusion, Myocardia...	ORPHA:68
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Increased variability in muscle fiber diameter	OMIM:615595
Congenital Generalized Lipodystrophy	Macroglossia, Skeletal muscle hypertrophy, Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:528
Gm1 Gangliosidosis	Macroglossia, Recurrent respiratory infections, Camptodactyly of finger, Aspiration pneumonia, Ap...	ORPHA:354
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Respiratory dis...	OMIM:220110
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Lujo Hemorrhagic Fever	Myocarditis, Hypotension, Atelectasis, Rhinitis, Drowsiness, Respiratory distress, Subconjunctiva...	ORPHA:319213
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly, Congestive heart failure, Limb muscle weakness	OMIM:619259
Idiopathic Hypereosinophilic Syndrome	Raynaud phenomenon, Dyspnea, Cough, Intracranial hemorrhage, Pulmonary embolism, Myocardial eosin...	ORPHA:3260
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Recurrent respiratory infections, Atrial septal defect, Respiratory distress, Hypertrophic cardio...	OMIM:619383
Pulmonary Arteriovenous Malformation	Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Bacterial endocarditis, Cough, Pa...	ORPHA:2038
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Lethargy, Hypertrophic cardiomyopathy, Confusion, Dilated cardiomyopathy, Prolonged QT interval	ORPHA:71212
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Patent foramen ovale, Atrial septal defect	ORPHA:89844
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Congestive heart failure, Respiratory insufficiency	OMIM:166210
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure	ORPHA:2759
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture, Recurrent pneumonia, Congestive heart failure	OMIM:616271
Lmna-Related Cardiocutaneous Progeria Syndrome	Mitral regurgitation, Intracranial hemorrhage, Hypertension, Ventricular hypertrophy, Mitral valv...	ORPHA:363618
Hemorrhagic Fever-Renal Syndrome	Intracranial hemorrhage, Respiratory failure, Confusion, Epistaxis, Dyspnea, Hypotension, Palpita...	ORPHA:340
Agnathia-Otocephaly Complex	Situs inversus totalis, Secundum atrial septal defect, Tracheomalacia, Pulmonary hypoplasia, Resp...	OMIM:202650
Erdheim-Chester Disease	Dyspnea, Cough, Abnormal aortic valve morphology, Pulmonary fibrosis, Congestive heart failure, A...	ORPHA:35687
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,...	ORPHA:75565
Waldenström Macroglobulinemia	Reduced consciousness/confusion, Vasculitis, Respiratory insufficiency, Gastrointestinal hemorrha...	ORPHA:33226
Scorpion Envenomation	Myocarditis, Rhabdomyolysis, Arrhythmia, Hypertension, Prominent U wave, Premature ventricular co...	ORPHA:466677
Dihydropyrimidinase Deficiency	Lethargy, Excessive daytime somnolence	OMIM:222748
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Lethargy, Confusion, Coma	OMIM:607483
Simple Cryoglobulinemia	Raynaud phenomenon, Vasculitis, Hypertension, Abnormal heart morphology, Gastrointestinal hemorrh...	ORPHA:91139
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Hypercalcemia, Infantile, 1	Lethargy	OMIM:143880
Isolated Complex I Deficiency	Respiratory insufficiency, Abnormal mitochondria in muscle tissue, Lethargy, Hypertrophic cardiom...	ORPHA:2609
Pediatric-Onset Graves Disease	Sinus tachycardia, Palpitations, Hypertension, Congestive heart failure, Neonatal asphyxia, Atria...	ORPHA:525731
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
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