Gene Summary

ELK3, member of ETS oncogene family
Net,  D430049E23Rik,  Sap-2,  Erp

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 System Allele Zyg Sex Life Stage P Value
increased circulating HDL cholesterol level Elk3em1(IMPC)Ics HET Early adult 8.30×10-05
abnormal retina blood vessel pattern Elk3Elk3 HOM Early adult 3.80×10-05
abnormal eye morphology Elk3Elk3 HOM Early adult 2.09×10-05
increased circulating cholesterol level Elk3em1(IMPC)Ics HET Early adult 5.61×10-07
abnormal retina vasculature morphology Elk3Elk3 HOM Early adult 3.80×10-05
decreased prepulse inhibition Elk3Elk3 HOM Early adult 2.05×10-07
increased circulating alkaline phosphatase level Elk3em1(IMPC)Ics HET Early adult 7.18×10-07

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 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.

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 Similarity of
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia 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
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Pulmonic stenosis, Chylopericardium, Respirator... ORPHA:2414
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Nonimmune hydrops fetali... OMIM:617300
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... 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, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Butyrylcholinesterase Deficiency
Respiratory failure, Myocardial infarction, Respiratory failure requiring assisted ventilation, C... ORPHA:132
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Staphylococcal Necrotizing Pneumonia
Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural e... ORPHA:36238
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pleural effus... OMIM:265300
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... ORPHA:411703
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subpleural honeycombing,... ORPHA:79126
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Asbestos Intoxication
Oxygen desaturation on exertion, Pleural thickening, Hepatojugular reflux, Decreased DLCO, Nonpro... ORPHA:2302
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Respirat... OMIM:613642
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Cough, Mediastinal lymphadeno... ORPHA:60026
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Pericardial effusion ORPHA:48686
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Dyspnea,... OMIM:610476
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Exertional dyspnea, Hemothorax, Pulmonary edema,... ORPHA:199241
Pneumothorax, Lymphedema, Chylopericardium, Emphysema, Lymphadenopathy, Restrictive ventilatory d... ORPHA:538
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... ORPHA:45452
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylothorax, Peri... OMIM:616843
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ca... ORPHA:1041
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Inability to walk, Reduced maximal inspiratory pressure, Abnormal resp... ORPHA:266
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Loss of ambulation, Respiratory insufficiency due to muscle weakness OMIM:300717
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure ORPHA:3015
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Follicular Lymphoma
Lymphedema, Pleural effusion, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Infant Acute Respiratory Distress Syndrome
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... ORPHA:70587
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Lymphedema, Congestive heart failure, Nonimmune hydrops fetali... ORPHA:137667
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Inability to walk, Dyspnea, Cough, Respiratory failure, Respiratory failure... ORPHA:90117
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Upper airway obstr... ORPHA:60032
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Central apnea OMIM:611722
Gaucher Disease Type 2
Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough, Recurrent respirato... ORPHA:77260
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency, Hypertension ORPHA:3188
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Pleural effusion, Lymphadenopat... ORPHA:3392
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Polyhydramnios, Congestive heart failure OMIM:616794
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Peripheral edema, Exer... ORPHA:563
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Palpebral edema, Tongue edema, Pharyngeal edema, ... ORPHA:100057
Hypocomplementemic Urticarial Vasculitis
Angioedema, Small vessel vasculitis, Pericardial effusion, Ataxia, Emphysema, Pleural effusion, L... ORPHA:36412
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:253300
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper respiratory t... OMIM:263000
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Malignant Atrophic Papulosis
Pleural effusion, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... OMIM:610913
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Polyhydramnios, Thymus hyperplasia, Chylothorax OMIM:619036
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure OMIM:613869
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, P... ORPHA:69735
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Systemic Capillary Leak Syndrome
Hypotension, Pedal edema, Pulmonary edema, Pleural effusion, Cardiorespiratory arrest, Pericardit... ORPHA:188
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:612877
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Mediastinal... OMIM:234810
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventilatory defect, Dyspnea, Hypersens... ORPHA:2902
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... ORPHA:330001
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Congestive heart failure, Pleura... ORPHA:454836
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Hypoxemia, Heart block,... ORPHA:542323
Adult Acute Respiratory Distress Syndrome
Hypotension, Pulmonary edema, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respiratory fa... ORPHA:70578
Muscular Dystrophy, Duchenne Type
Cardiomyopathy, Hypoventilation, Tip-toe gait, Abnormal EKG, Congestive heart failure, Dilated ca... OMIM:310200
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation, Episodic hypertension OMIM:619483
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Congenital Myopathy 14
Apnea, Polyhydramnios, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618414
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Polyhydramnios, Respiratory insufficiency due to mu... OMIM:300580
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Stillbirth, Neon... OMIM:619751
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pulmonary edema, T-wave inversion, Pericardial effusion, ST segment depression, Resp... OMIM:261740
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Recurrent aspiration pneumonia, Hepatosplenomegaly, Waddling gait, Difficulty ... ORPHA:2590
Bronchiectasis, Asthma, Pleuritis, Chronic pulmonary obstruction, Intracranial hemorrhage, Pleura... ORPHA:1163
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia OMIM:618637
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Hennekam Syndrome
Respiratory insufficiency, Hydrops fetalis, Lymphedema, Pericardial effusion, Pulmonary lymphangi... ORPHA:2136
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Ascites, Br... OMIM:614702
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Polyhydramnios, Abnormal pleura morphology ORPHA:2444
Lymphedema-Distichiasis Syndrome
Lymphedema, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Chylothorax, Arrhythmia OMIM:153400
Bronchitis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Pericarditis, Sin... ORPHA:449280
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinopathy, Optic atrophy, Lymphedema, Retinal dystrophy, Abnormality of retinal pigmentation, P... ORPHA:2526
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Dyspnea, Arrhythmia ORPHA:871
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Pericarditis, Lymphadenopathy, Joint swelling, Splenomegaly ORPHA:85414
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Hypertrophic cardiomyopathy, Respiratory failure, Bradycardia OMIM:616277
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Cerebral hemorrhage, Pleural effusion, Ascites, Lethargy, Bradycardia,... OMIM:617397
Meige Disease
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... ORPHA:90186
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Ataxia, Apnea, Respiratory failure, Neonatal death OMIM:610127
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Pleural effusion, Arrhythmia, Ascites, Splenomegaly, Ca... OMIM:235200
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Difficulty walking, Respiratory failure, Neonatal death, Respiratory insuffici... OMIM:611890
Glycogen Storage Disease Ii
Respiratory insufficiency, Right axis deviation, Recurrent respiratory infections, Sinus tachycar... OMIM:232300
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleural empyem... ORPHA:2038
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure OMIM:614399
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Respiratory distress ORPHA:91130
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Pulmonary insufficiency, Hyp... ORPHA:70588
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Pontocerebellar Hypoplasia, Type 13
Gait ataxia, Inability to walk, Asthma, Pleural effusion, Edema, Sleep apnea, Recurrent respirato... OMIM:618606
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... OMIM:613838
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly,... ORPHA:99931
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Tibial Muscular Dystrophy
Respiratory failure, Difficulty walking, Steppage gait, Cardiomyopathy ORPHA:609
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Pleural eff... OMIM:619644
Nemaline Myopathy 8
Respiratory failure, Polyhydramnios OMIM:615348
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Inability to walk, Central sleep apnea, Congestive heart failure, Ataxia, Hypertrophic cardiomyop... ORPHA:70472
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Mitochondrial Complex I Deficiency, Nuclear Type 10
Ataxia, Apnea, Dysmetria, Central hypoventilation, Respiratory failure, Sleep apnea, Broad-based ... OMIM:618233
Abnormal lymph node morphology, Abnormal pleura morphology, Pneumothorax, Abnormal cardiac ventri... ORPHA:797
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, M... ORPHA:91359
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Respiratory distress, Cardiomyopathy ORPHA:26792
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Choreoathetosis, Hypoxemia, ... OMIM:610978
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Transudative pleural effusion, Ascites, Abnor... ORPHA:284227
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory distress, Dilated cardiomyopathy, Ataxia, Hypertrophic car... OMIM:614299
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Polyhydramnios, Lymphedema, Hepatosplenomegaly, Mitral regurgitation, Chylothorax, Aortic valve s... OMIM:613563
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Abnormal spleen morphology, Abnormal lymphatic vessel ... ORPHA:464329
Circumvallate Placenta Syndrome
Respiratory insufficiency, Polyhydramnios, Intracranial hemorrhage OMIM:215550
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Loss of ambulation OMIM:613435
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Waldenström Macroglobulinemia
Respiratory insufficiency, Retinal hemorrhage, Pedal edema, Congestive heart failure, Ataxia, Epi... ORPHA:33226
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Akinesia, Dilated cardiomyopathy, Edema, Respiratory failure OMIM:607598
Succinic Acidemia
Respiratory distress OMIM:600335
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Intermediate Nemaline Myopathy
Respiratory failure, Polyhydramnios, Difficulty walking, Cardiomyopathy ORPHA:171433
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Pulm... OMIM:115197
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Restrictive ventilatory defect, Cough, Abn... ORPHA:724
Cryptogenic Organizing Pneumonia
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... ORPHA:1302
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Congestive heart failure, Lung abscess, Pleural effusion, Constrictive pericardi... ORPHA:67
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Respiratory distress, Pleural... ORPHA:292
Hepatic Veno-Occlusive Disease
Respiratory failure, Ascites ORPHA:890
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Pedal edema, Respiratory tract infection, Hypertension, Pleural effusion, Ede... ORPHA:567546
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Lethargy, Respiratory distress, Respiratory insufficiency due to mus... OMIM:613561
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Polyhydramnios OMIM:225753
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Polyhydramnios, Neonatal death, Akinesia OMIM:619334
Snakebite Envenomation
Hypotension, Respiratory paralysis, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage... ORPHA:449285
Gait imbalance, Respiratory distress ORPHA:673
Perching Syndrome
Respiratory distress OMIM:617055
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Hypertrophic cardiomyopathy, Lethargy OMIM:619386
X-Linked Centronuclear Myopathy
Polyhydramnios, Recurrent respiratory infections, Inability to walk, Respiratory distress, Respir... ORPHA:596
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Hypertension, Recurrent respiratory infections ORPHA:2111
Pyruvate Dehydrogenase E1-Alpha Deficiency
Choreoathetosis, Episodic ataxia, Apneic episodes precipitated by illness, fatigue, stress, Respi... OMIM:312170
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... ORPHA:99105
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Respiratory distress, Dehydration, Lethargy, Splenomegaly, Cardiomyopathy ORPHA:79312
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk OMIM:617977
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia, Falls ORPHA:240085
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Loss of ambulation, Respiratory failure ORPHA:370968
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Hemosiderin-laden macrophages i... OMIM:616414
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Congestive h... ORPHA:444013
Nipah Virus Disease
Hypotension, Cough, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Immunodeficiency 54
Respiratory insufficiency, Lymphadenopathy, Respiratory failure, Recurrent respiratory infections... OMIM:609981
Myopathy And Diabetes Mellitus
Progressive cerebellar ataxia, Tip-toe gait, Respiratory distress, Inability to walk ORPHA:2596
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... ORPHA:64739
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Dyspnea, Global systolic dysfunction, Cardiomyopathy OMIM:606842
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... ORPHA:422
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Exertional dyspnea, Reduced left ventricular ejection fraction, Concen... OMIM:613243
Gorham-Stout Disease
Pleural effusion, Edema, Rhinorrhea, Lymphangioma ORPHA:73
Noonan Syndrome 8
Polyhydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonic ste... OMIM:615355
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Malignant Atrophic Papulosis
Ischemic stroke, Pleural effusion, Myocardial infarction, Gastrointestinal hemorrhage, Telangiect... ORPHA:679
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Waddling gait, Dyspnea, Difficulty walking, Cough, Cardiomyopathy ORPHA:86812
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Pericardial effusion, Respiratory distre... ORPHA:781
Acquired Methemoglobinemia
Syncope, Hypoxemia, Respiratory distress, Dyspnea, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, ... OMIM:613490
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure ORPHA:168486
Hyperekplexia 4
Respiratory failure OMIM:618011
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Dyspnea, Arrhythmia, Respiratory failure, Respiratory insufficiency due t... ORPHA:352447
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Mercury Poisoning
Hypotension, Interstitial pneumonitis, Respiratory distress, Hypertension, Dyspnea, Respiratory f... ORPHA:330021
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Lymphadenopathy, Dyspnea, Ascites ORPHA:93552
N-Acetylglutamate Synthase Deficiency
Lethargy, Respiratory distress OMIM:237310
Spinocerebellar Ataxia Type 1
Gait imbalance, Dysdiadochokinesis, Gait disturbance, Dysmetria, Respiratory failure, Progressive... ORPHA:98755
Thyroid Lymphoma
Respiratory distress, Lymphadenopathy, Upper airway obstruction, Dyspnea, Stridor ORPHA:97285
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hepatosplenomegaly, Pleural effusion, Recurrent pneumonia, Lymphadenopathy, Pulmon... OMIM:618935
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Nephronophthisis 2
Respiratory insufficiency, Pulmonary insufficiency, Pulmonary hypoplasia, Hypertension, Oligohydr... OMIM:602088
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Dyspne... OMIM:113900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory tract infectio... ORPHA:308552
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Lethal Recessive Chondrodysplasia
Polyhydramnios, Edema, Respiratory distress ORPHA:1423
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Anaplastic Thyroid Carcinoma
Respiratory distress, Lymphadenopathy, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplas... ORPHA:142
Fryns Syndrome
Polyhydramnios, Polysplenia, Pulmonary hypoplasia, Chylothorax, Stillbirth OMIM:229850
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Hydrops fetalis, Dilated cardiomyopathy, Congestive heart failure, Arr... OMIM:609015
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Polyhydramnios, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopa... OMIM:616897
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... ORPHA:254864
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary insufficiency, Pulmonary hypoplasia, Tracheomalacia, Neonata... OMIM:245650
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Pulmonary hypoplasia, Respiratory distress, Oligohydramnios OMIM:616733
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Bronchitis, Respiratory tract infection, Pneumothorax, Exertional dysp... ORPHA:60025
Leigh Syndrome
Respiratory insufficiency, Ataxia, Abnormal pattern of respiration, Respiratory failure OMIM:256000
Poems Syndrome
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Lymphadenopathy, ... ORPHA:2905
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Abnormal breath sound, Hepatosplenomegaly, Crackles, Restrictive vent... ORPHA:210136
Solar Urticaria
Syncope, Edema, Dyspnea, Periorbital edema, Angioedema, Wheezing ORPHA:97230
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Ataxia, Hypertension, Gait ataxia ORPHA:363400
Deafness-Lymphedema-Leukemia Syndrome
Lymphedema, Intracranial hemorrhage, Lymphadenopathy, Respiratory failure, Recurrent respiratory ... ORPHA:3226
Hemorrhagic Fever-Renal Syndrome
Hypotension, Pulmonary edema, Hypertension, Respiratory distress, Internal hemorrhage, Subconjunc... ORPHA:340
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor, Ataxia ORPHA:2254
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Lethargy, Neonat... OMIM:605711
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Primary Intestinal Lymphangiectasia
Pericardial effusion, Abnormal lymphatic vessel morphology, Pleural effusion, Edema, Ascites, Int... ORPHA:90362
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... ORPHA:244
Ring Chromosome 22 Syndrome
Pleural effusion, Edema, Gait ataxia, Lymphedema ORPHA:1446
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation, Difficulty walking OMIM:603689
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Polyhydramnios, Congestive heart failure, Respiratory distress, Hepato... ORPHA:367
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Asthma, Transient ischemic attack, Supraventricular arrhythmia, Raynaud pheno... ORPHA:3260
Boutonneuse Fever
Respiratory failure, Lymphadenopathy, Vasculitis, Cervical lymphadenopathy ORPHA:83313
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:212140
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Lymphoproliferative Syndrome 1
Pleural effusion, Lymphadenopathy, Splenomegaly, Pericardial effusion OMIM:613011
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Pulmonary Hemosiderosis
Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage OMIM:178550
Postsynaptic Congenital Myasthenic Syndromes
Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, Respirator... ORPHA:98913
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Ataxia, Loss of ambulation, Respiratory failure, Lethargy, Tachypnea OMIM:615838
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy, Abnormal left... ORPHA:75249
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Oligohydramnios, Hypertrophic cardiomyopathy, Arrhythmia, Respiratory f... ORPHA:1194
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Folinic Acid-Responsive Seizures
Respiratory distress, Ataxia, Apnea, Difficulty walking, Broad-based gait ORPHA:79097
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Peri... OMIM:181000
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Upper airway obstruction, Respiratory distress OMIM:612776
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Neonatal death, Respiratory failure, Neonatal respiratory distress OMIM:245400
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... OMIM:612098
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Polyhydramnios, Respiratory failure OMIM:615330
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Inability to walk, Recurren... ORPHA:70
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Lymphadenitis, Pneumothorax, Productive cough, Pleuritis, Respiratory distress, Emphysema, Pleura... ORPHA:31204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Restrictive ventilatory defect, Tip-toe gait, Difficulty walking OMIM:606612
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Tricuspid regurgitation, Tip-toe gait, Congestive heart failure, Mitra... ORPHA:746
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Congestive heart failure, Ataxia, Pleural effusion, D... ORPHA:35687
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Congestive heart failure, Oligohydramnios, Respi... OMIM:615512
Riddle Syndrome
Bronchitis, Abnormal pulmonary interstitial morphology, Telangiectasia, Gait disturbance, Recurre... ORPHA:420741
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Difficulty walking OMIM:613954
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Multiple Carboxylase Deficiency
Lethargy, Respiratory distress, Ataxia, Tachypnea ORPHA:148
Laron Syndrome
Hypercholesterolemia ORPHA:633
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia ORPHA:240103
Hereditary Angioedema Type 1
Hypotension, Edema of the dorsum of hands, Intestinal edema, Respiratory distress, Dyspnea, Tongu... ORPHA:100050
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Ataxia, Dyspnea, Stri... OMIM:211530
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Inhalational Anthrax
Hypotension, Dyspnea, Respiratory distress, Internal hemorrhage ORPHA:247257
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Respiratory failure, Cardiomyopathy ORPHA:79327
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, Respiratory distress OMIM:612075
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Ovarian Fibrothecoma
Pleural effusion, Ascites ORPHA:314478
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Cardiac arrest, Respiratory distress, Hypertrophic cardiomyopathy, Letharg... OMIM:604377
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Apnea, Hypertrophic cardi... ORPHA:70474
Thymic Tumor
Neoplasm of the thymus, Cardiac arrest, Pericarditis, Edema, Dyspnea, Cough, Mediastinal lymphade... ORPHA:100100
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Polyhydramnios, Ataxia, Fetal ascites, Respiratory failure, Pulmonary ... OMIM:607625
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Episodic tachypnea, Pericardial effusion, Respiratory distress, Dilated cardiomyopathy, Prolonged... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Truncal ataxia, Respiratory distress, Ataxia, Hypertrophic cardiomyopathy, Re... OMIM:220110
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Gait ataxia, Ataxia, Dysmetria, Steppage gait, Respiratory failure OMIM:616505
Atrial Septal Defect, Ostium Secundum Type
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnorma... ORPHA:99103
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Thyroid lymphangiectasia, Pericardial effusion, Pulmonary lymphangiectasia, Nonimmune... OMIM:235510
Congenital Disorder Of Glycosylation, Type Ie
Splenomegaly, Telangiectasia, Respiratory distress, Ataxia OMIM:608799
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Subdural hemorrhage, Central apnea, Respiratory failure, Respiratory insufficienc... OMIM:618291
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Peripheral ... ORPHA:99106
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Pulmonic stenosis, Chylothorax, Lymphedema OMIM:163950
Cerebral edema, Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effusion, Dyspne... ORPHA:1546
Behçet Disease
Pulmonary embolism, Cerebral ischemia, Pleuritis, Gait disturbance, Ataxia, Pleural effusion, Per... ORPHA:117
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Ventilator dependence with inability to wean, Inspiratory stridor, Tachypnea OMIM:604320
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress OMIM:615042
Congenital Tricuspid Valve Dysplasia
Systolic heart murmur, Tricuspid regurgitation, Pericardial effusion, Hypoxemia, Anomalous pulmon... ORPHA:555874
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Choreoathetosis, Respiratory distress ORPHA:289916
Neurogenic Arthrogryposis Multiplex Congenita
Oligohydramnios, Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Myotonic Dystrophy 1
Polyhydramnios, Respiratory distress, Atrial flutter, First degree atrioventricular block, Atrial... OMIM:160900
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Pulmonary Hypertension, Primary, 1
Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmonary... OMIM:178600
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Congestive heart failure, Cardiorespiratory arrest, Restrictive ventilatory de... ORPHA:26791
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Hypoxemia, Respiratory distress ORPHA:2140
Hypercholesterolemia ORPHA:263501
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection OMIM:620011
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections... OMIM:606763
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... OMIM:614370
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory tract infectio... ORPHA:365
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Lethargy, Respiratory distress, Cerebral ischemia ORPHA:927
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Holocarboxylase Synthetase Deficiency
Lethargy, Respiratory distress, Ataxia, Tachypnea ORPHA:79242
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Gait ataxia, Pleural effusion, Edema, Anasarca, Unsteady gait OMIM:254900
American Trypanosomiasis
Congestive heart failure, Periorbital edema, Edema, Lymphadenopathy, Dyspnea, Cough, Arrhythmia, ... ORPHA:3386
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Abnormal pulmonary interstitial morphology, Generalized lymphaden... ORPHA:50918
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Pleural effusion, Recurrent upper respiratory tract infecti... OMIM:618183
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Central apnea, R... OMIM:616482
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Pleural effusion, Recurrent pneumonia, Lymphadenopathy, Cough, Ascites, Splenomega... OMIM:306400
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Dyspnea, Palpitations, Atr... OMIM:613873
Pelizaeus-Merzbacher Disease, Connatal Form
Inability to walk, Ataxia, Dystonic gait, Difficulty walking, Respiratory failure ORPHA:280210
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pulmonary arterial hypertension, Cerebral edema, Hypoventilation, Redu... ORPHA:258
Alkuraya-Kucinskas Syndrome
Pleural effusion, Edema, Pericardial effusion OMIM:617822
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhage, Pleural effusion, General... ORPHA:244242
Pneumothorax, Atelectasis, Periorbital edema, Pleural effusion, Epistaxis, Pericarditis, Rhinorrh... ORPHA:73263
Bronchial Neuroendocrine Tumor
Hypotension, Abnormal pulmonary interstitial morphology, Facial telangiectasia, Asthma, Cardiogen... ORPHA:97287
Chitayat Syndrome
Polyhydramnios, Abnormal pulmonary interstitial morphology, Respiratory distress, Tracheomalacia,... OMIM:617180
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Respiratory distress, Dehydration, Lethargy, Cardiomyopathy OMIM:251000
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Falls, Asthma, Chore... ORPHA:209905
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Bronchiectasis, Productive cough, Lung abscess, Pleural effusion, Sinusitis, Abnormality of the s... ORPHA:228119
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Chédiak-Higashi Syndrome
Inability to walk, Pericardial effusion, Gait disturbance, Ataxia, Hepatosplenomegaly, Pleural ef... ORPHA:167
Aortic Arch Interruption
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Tricuspid regurgi... ORPHA:2299
Fixed Subaortic Stenosis
Systolic heart murmur, Left ventricular outflow tract obstruction, Exertional dyspnea, Diastolic ... ORPHA:3092
Pleural empyema, Cerebral ischemia, Exudative pleural effusion, Respiratory distress, Pericarditi... ORPHA:228123
Respiratory distress ORPHA:66637
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Respiratory distress, Pleural effusion, Pe... ORPHA:509
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Obstructive sleep apnea, Stridor, Intercostal muscle weakness OMIM:606071
Amyotrophic Lateral Sclerosis
Respiratory failure, Abnormal respiratory system physiology, Xerostomia, Dyspnea ORPHA:803
Hypertension, Respiratory distress, Bradycardia, Tachycardia, Tachypnea ORPHA:3299
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Hypotension, Inability to walk, Hypertension, Hypovolemic shock, Absent tonsils, Respiratory fail... ORPHA:2912
Secondary Intestinal Lymphangiectasia
Lymphedema, Intestinal lymphedema, Pleural effusion, Edema, Constrictive pericarditis, Intestinal... ORPHA:90363
Episodic Ataxia Type 1
Choreoathetosis, Tip-toe gait, Respiratory distress ORPHA:37612
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Heart murmur, S... ORPHA:275766
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Oligohydra... OMIM:608836
Eisenmenger Syndrome
Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Supraventricular arrhythmia, Angina p... ORPHA:97214
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary arterial hypertension, Asplenia, Polyhydramnios, Pulmonary insufficiency, Alveolar capi... OMIM:265380
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Choreoathetosis, Pneumothorax, Cardiomyopathy ORPHA:445038
Cocaine Intoxication
Hypotension, Pneumothorax, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Pulmonary edema, Ve... ORPHA:90068
Congenital Gerbode Defect
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Elevated jugular venous pres... ORPHA:99095
Noonan Syndrome 10
Mitral stenosis, Pleural effusion, Hypertrophic cardiomyopathy, Mitral regurgitation, Increased n... OMIM:616564
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Geleophysic Dysplasia 3
Polyhydramnios, Mitral regurgitation, Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Arterial Tortuosity Syndrome
Cardiac arrest, Respiratory distress, Congestive heart failure, Hypertension, Cardiorespiratory a... ORPHA:3342
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, Lung absces... OMIM:610910
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Recurrent respiratory infections, Abnormal respiratory system physiology, Edema, ... ORPHA:98905
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Polyhydramnios, Persistent fetal circulation, Pericardial effusi... ORPHA:363705
Congenital Myasthenic Syndrome
Episodic respiratory distress, Polyhydramnios, Tip-toe gait, Central sleep apnea, Ataxia, Intermi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Polyhydramnios, Tip-toe gait, Central sleep apnea, Ataxia, Intermi... ORPHA:98914
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Respiratory distress ORPHA:89844
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Pedal edema, Pulmonary artery aneurysm, Card... ORPHA:228116
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Oligohydramnios, Hypovolemic shock, Respiratory failure, Cardi... ORPHA:158687
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation, Lethargy, Tachycardia OMIM:229700
Severe Congenital Nemaline Myopathy
Respiratory failure, Polyhydramnios, Pulmonary hypoplasia, Edema of the dorsum of hands ORPHA:171430
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension OMIM:613845
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Primary Dystonia, Dyt4 Type
Gait disturbance, Respiratory distress, Dysdiadochokinesis ORPHA:98805
Colchicine Poisoning
Hypotension, Hypovolemia, Cardiogenic shock, Respiratory distress, Congestive heart failure, Card... ORPHA:31824
Choanal Atresia
Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway obstruction... ORPHA:137914
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Akinesia, Respiratory distress, Nonimmune hydrops fetalis, Hepatosplenomegaly, Ap... OMIM:608013
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:615558
Familial Mediterranean Fever
Pleural effusion, Pleuritis, Pericarditis, Splenomegaly OMIM:249100
Myotubular Myopathy With Abnormal Genital Development
Polyhydramnios, Neonatal death, Respiratory distress, Atelectasis OMIM:300219
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Third degree atrioventricular block, Hypertension, Dilated cardi... OMIM:619573
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Cerebral edema, Ataxia, Bradypnea OMIM:617186
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2707
Scimitar Syndrome
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Left-to-right shunt, Resp... ORPHA:185
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Exertional dyspnea, Transient ischemic at... ORPHA:99104
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Gait ataxia, Inability to walk, Respiratory distress, Hypertrophic cardiomyopathy, Recurrent resp... OMIM:619383
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Respiratory distress ORPHA:226313
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Ethylene Glycol Poisoning
Hypotension, Cerebral edema, Pulmonary edema, Congestive heart failure, Hypertension, Ataxia, Sho... ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure OMIM:610678
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Infection-Related Hemolytic Uremic Syndrome
Respiratory tract infection, Pleural empyema, Pleuritis, Hypertension, Hypertensive crisis, Edema... ORPHA:544482
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Periorbital edema, E... ORPHA:141083
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Choreoathetosis, Congestive heart failure, Respiratory distress, Ataxia, Recurren... OMIM:616271
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Aspiration, Reduced forced vital capacity, Respiratory distress, ... OMIM:164310
Lujo Hemorrhagic Fever
Hypotension, Myocarditis, Rhinitis, Cerebral edema, Facial edema, Respiratory distress, Shock, Cr... ORPHA:319213
Respiratory distress ORPHA:370924
Bronchitis, Myocarditis, Pulmonary granulomatosis, Transient ischemic attack, Hypersplenism, Lung... ORPHA:1304
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Respiratory distress OMIM:619272
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Hydrops fetalis, Cardiomyopathy ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Primary Sclerosing Cholangitis
Spider hemangioma, Congestive heart failure, Hepatosplenomegaly, Pleural effusion, Ascites, Porta... ORPHA:171
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Recurrent bronchopulmonary infections, Congestive heart failure, Respiratory d... OMIM:617303
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Edema of the dorsum of feet, Respiratory distress, 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
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
Infantile Krabbe Disease
Respiratory failure, Abnormal heart rate variability, Respiratory distress ORPHA:206436
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Pulmonary hypoplasia, Congestive heart failure, Re... ORPHA:3309
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Tropical Endomyocardial Fibrosis
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... ORPHA:75565
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Moebius Syndrome