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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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


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
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... ORPHA:50251
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Tricuspid regurgitation, Chronic pulmonary obstruction, S... ORPHA:2414
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... 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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure requiring assisted ventilation, Respiratory failure, C... ORPHA:132
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Hypotensi... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... OMIM:265300
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Hypertension, Pulmonary arterial hypertension, Respiratory failure, Le... OMIM:605711
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... ORPHA:2302
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomeg... OMIM:612387
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Diffuse alveolar hemorrha... ORPHA:199241
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Cough, Dy... ORPHA:60026
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... ORPHA:70589
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Cough, Pneumothorax, Gastroin... ORPHA:538
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... ORPHA:100057
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Chylothorax, Nonimmune hydrops fetalis, Abnormality of the ... ORPHA:137667
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial... ORPHA:723
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory... ORPHA:266
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilatio... ORPHA:90117
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphedema, Pleural effusion, Lymphadenopathy ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Abnormality of the lymphatic system, Polyhydramnios, Lymph... ORPHA:1041
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Respiratory... ORPHA:70587
Gaucher Disease Type 2
Respiratory distress, Splenomegaly, Cough, Abnormal pattern of respiration, Cardiac arrest, Recur... ORPHA:77260
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Central apnea OMIM:611722
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Respiratory insufficiency ORPHA:3188
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... ORPHA:563
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Tachy... ORPHA:3392
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Congestive heart failure OMIM:616794
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis OMIM:602248
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Ataxia, Splenomegaly, Cough, Angioedema, Ascites, Restrictive ventilatory def... ORPHA:36412
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Thymus hyperplasia, Chylothorax, Neonatal respiratory distress OMIM:619036
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Systemic Capillary Leak Syndrome
Pulmonary edema, Arrhythmia, Hypotension, Myocarditis, Cough, Pedal edema, Rhinorrhea, Pleural ef... ORPHA:188
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Shock, Pneumonia, Ed... ORPHA:178320
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Hydrops fetalis, Palpebral edema, Abn... ORPHA:69735
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Ataxia, Respiratory insufficiency, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respirato... OMIM:614299
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... ORPHA:330001
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejecti... ORPHA:542323
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Mediastinal lymphadenopathy, Decreased DLCO, Cough, Dyspnea, Pulmonar... OMIM:234810
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productive cough, Pneu... ORPHA:454836
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Muscular Dystrophy, Duchenne Type
Loss of ambulation, Tip-toe gait, Arrhythmia, Obstructive sleep apnea, Dilated cardiomyopathy, Ab... OMIM:310200
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Episodic hypertension, Respiratory failure OMIM:619483
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Vasculitis, Hypotension, Shock, Pneumonia, Hypoxemia, ... ORPHA:70578
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios, Dilated cardiomyopathy, Respiratory insufficiency due to mu... OMIM:300580
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Pulmonary arterial hypertension, Stillbirth, Congestive hea... OMIM:619751
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:612877
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Wheezing, Restrictive ventilatory defect, Pleural effusion... ORPHA:2902
Asthma, Sinusitis, Chronic pulmonary obstruction, Hypersensitivity pneumonitis, Intracranial hemo... ORPHA:1163
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Respiratory failure OMIM:618637
Congenital Pulmonary Airway Malformation
Polyhydramnios, Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Hennekam Syndrome
Lymphangioma, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Respiratory insufficiency, H... ORPHA:2136
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Absence of lymph node germinal center, Edema o... ORPHA:90186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chylothorax, Retinopathy, Retinal detachment, Retinal dystro... ORPHA:2526
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Splenomegaly, Pleural effusion, Pericarditis, Lymphadenopathy ORPHA:85414
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Respiratory insufficiency, Neonatal death, Respiratory failure OMIM:610127
Sinusitis, Pleural empyema, Cough, Pleuritis, Bronchitis, Pneumonia, Abnormal respiratory system ... ORPHA:449280
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure ORPHA:871
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
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
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Pleural effu... OMIM:617397
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Difficulty walking, Recurrent pneumonia, Ventila... ORPHA:254875
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Recurrent aspiration pneumonia, Difficulty walking, Waddling gait, Respiratory... ORPHA:2590
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Perching Syndrome
Respiratory distress OMIM:617055
Hemochromatosis, Type 1
Splenomegaly, Arrhythmia, Pleural effusion, Telangiectasia, Ascites, Cardiomyopathy, Congestive h... OMIM:235200
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpitations, Heart murmur, Co... ORPHA:2038
Pontocerebellar Hypoplasia, Type 13
Asthma, Sleep apnea, Inability to walk, Gait ataxia, Pleural effusion, Edema, Recurrent respirato... OMIM:618606
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Neonatal death, Difficulty walking, Respiratory failure, Respiratory insuffici... OMIM:611890
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Right axis devi... OMIM:232300
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Joint swelling, Bronchiectasis, Chylothorax, Abnormality of the lymph nodes, Dyspnea, Arrhythmia,... ORPHA:797
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Recurrent l... OMIM:619644
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles, Reticular pattern on pulmonary H... ORPHA:99931
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Lethargy ORPHA:26792
Nemaline Myopathy 8
Polyhydramnios, Respiratory failure OMIM:615348
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Bradycardia OMIM:617248
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Central sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure,... ORPHA:70472
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... ORPHA:70588
Chronic Pneumonitis Of Infancy
Respiratory distress, Mediastinal lymphadenopathy, Cough, Tachypnea, Intercostal retractions, Red... ORPHA:91359
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Mitral regurgitation, Polyhydramnios, Lymphedema OMIM:613563
Circumvallate Placenta Syndrome
Polyhydramnios, Respiratory insufficiency, Intracranial hemorrhage OMIM:215550
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... OMIM:613838
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Tra... ORPHA:284227
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Ataxia, Dysmetria, Central hypoventilation, Respiratory failure OMIM:618233
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Epidural hemorrhage, ... ORPHA:464329
Familial Idiopathic Dilatation Of The Right Atrium
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... ORPHA:1677
Waldenström Macroglobulinemia
Ataxia, Splenomegaly, Respiratory insufficiency, Retinal hemorrhage, Vasculitis, Pedal edema, Per... ORPHA:33226
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Respiratory failure OMIM:613435
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Recurrent respiratory infections OMIM:615993
Lethal Congenital Contracture Syndrome 2
Akinesia, Polyhydramnios, Dilated cardiomyopathy, Edema, Respiratory failure OMIM:607598
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Chronic rhiniti... OMIM:608647
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Succinic Acidemia
Respiratory distress OMIM:600335
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Ataxia, Broad-based gait, Hypoxemi... OMIM:610978
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Lung abscess, Conge... ORPHA:67
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infections, Bronchiec... OMIM:619466
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ventilatory defect, Abn... ORPHA:724
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Pontocerebellar Hypoplasia, Type 4
Polyhydramnios, Respiratory failure OMIM:225753
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Congenital Enterovirus Infection
Respiratory distress, Hydrops fetalis, Hypotension, Myocarditis, Polyhydramnios, Pericardial effu... ORPHA:292
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Bradykinesia, Falls ORPHA:240085
Arthrogryposis Multiplex Congenita 6
Polyhydramnios, Akinesia, Respiratory failure, Neonatal death OMIM:619334
Snakebite Envenomation
Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... ORPHA:449285
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Cystic Hamartoma Of Lung And Kidney
Hypertension, Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... ORPHA:567546
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Respiratory distress, Gait imbalance ORPHA:673
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Congestive heart failure, Pulmonary edema, Sudden... OMIM:115197
Respiratory distress, Congenital laryngeal stridor OMIM:150280
X-Linked Centronuclear Myopathy
Respiratory distress, Inability to walk, Respiratory failure requiring assisted ventilation, Poly... ORPHA:596
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure, Lethargy OMIM:619386
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy, Dyspnea, Respiratory failure, Respiratory insufficiency due t... ORPHA:352447
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Myopathy And Diabetes Mellitus
Respiratory distress, Inability to walk, Progressive cerebellar ataxia, Tip-toe gait ORPHA:2596
Congenital Muscular Dystrophy With Intellectual Disability
Loss of ambulation, Respiratory insufficiency, Respiratory failure ORPHA:370968
Hepatic Veno-Occlusive Disease
Ascites, Respiratory failure ORPHA:890
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Global systolic dysfunction, Cardiomyopathy OMIM:606842
Immunodeficiency 54
Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Respiratory failure, Recurrent respirat... OMIM:609981
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Dehydration, Choreoathetosis, Cardiomyopathy, Lethargy ORPHA:79312
Noonan Syndrome 8
Pulmonic stenosis, Mitral regurgitation, Polyhydramnios, Pleural effusion, Hypertrophic cardiomyo... OMIM:615355
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... ORPHA:64739
Malignant Atrophic Papulosis
Telangiectasia of the skin, Myocardial infarction, Pleural effusion, Gastrointestinal hemorrhage,... ORPHA:679
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Gorham-Stout Disease
Edema, Pleural effusion, Lymphangioma, Rhinorrhea ORPHA:73
Monosodium Glutamate Sensitivity
Dyspnea, Palpitations OMIM:231630
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Paroxysmal dyspnea, Stridor, Severely reduced left ventricular ej... ORPHA:444013
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Syncope, Hypoxemia, Dyspnea ORPHA:464453
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Cough, Difficulty walking, Waddling gait, Dyspnea, Cardiomyopathy ORPHA:86812
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cough, Whee... OMIM:613490
Q Fever
Respiratory distress, Abnormal left ventricular function, Splenomegaly, Hepatosplenomegaly, Myoca... ORPHA:781
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Respiratory insufficiency, Respiratory failure, Edema OMIM:615330
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Mediastina... ORPHA:133
Hyperekplexia 4
Respiratory failure OMIM:618011
Intermediate Nemaline Myopathy
Polyhydramnios, Difficulty walking, Respiratory failure ORPHA:171433
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... ORPHA:330021
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Interlobular septal thickening, Bronchiectasis, Subpleural inter... ORPHA:60025
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Recurrent pneumonia, Pleu... OMIM:618935
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Edema, Pleural effusion, Dyspnea, Lymphadenopathy, Pericardial effusion, Ascites ORPHA:93552
Spinocerebellar Ataxia Type 1
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Gait ... ORPHA:98755
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Lymphadenopathy, Stridor ORPHA:97285
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Arrhythmia, Cardiomyopathy OMIM:612999
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Left ventricular outflow tract obstruction, Respiratory insufficiency, Hear... ORPHA:308552
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Fryns Syndrome
Chylothorax, Polyhydramnios, Pulmonary hypoplasia, Polysplenia, Stillbirth OMIM:229850
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... OMIM:238600
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Lymphadenop... ORPHA:142
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary insufficiency, Respiratory insufficiency, Neonatal death, Pulmonary hyp... OMIM:245650
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Oligohydramnios, Pulmonary hypoplasia OMIM:616733
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Crackles, Abnormal pleura morphology, Cough, Abnormal breath sound, Portal hy... ORPHA:210136
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Hydrops fetalis, Arrhythmia, Dilated cardiomyopathy, Respiratory failu... OMIM:609015
Nephronophthisis 2
Pulmonary insufficiency, Respiratory insufficiency, Pulmonary hypoplasia, Hypertension, Oligohydr... OMIM:602088
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopa... OMIM:616897
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Solar Urticaria
Wheezing, Syncope, Angioedema, Edema, Periorbital edema, Dyspnea ORPHA:97230
Ring Chromosome 22 Syndrome
Pleural effusion, Lymphedema, Edema, Gait ataxia ORPHA:1446
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure, Ataxia OMIM:256000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Edema, Pleural ... ORPHA:2905
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Pulmonary edema, Hematemesis, Palpitations, Tachycardia, Intracrani... ORPHA:340
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Ataxia, Gait ataxia, Respiratory failure ORPHA:363400
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Intracranial hemorrhage, Lymphedema, Lymphadenopathy, Respiratory failure, Recurren... ORPHA:3226
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Polyhydramnios, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Difficulty walking, Respiratory failure, Reduced vital capacity OMIM:603689
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Respiratory distress, Joint swelling, Asthma, Vasculitis in the skin... ORPHA:3260
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Recurrent sinopulmonary infections, Wheezi... ORPHA:244
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Respiratory failure, Vasculitis ORPHA:83313
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Arrhythmia, Oligohydramnios, Respiratory failure, Congestive heart f... ORPHA:1194
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Broad-based gait, Difficulty walking ORPHA:79097
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... ORPHA:75249
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatosplenomegaly, Respiratory insufficiency, Nonimmune hydrops fetalis, P... ORPHA:367
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Loss of ambulation, Ataxia, Tachypnea, Gait disturbance, Respiratory failure, Lethargy OMIM:615838
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Respiratory distress, Nonproductive cough, Lymphadenitis, Pneumothorax, Pleuritis, Productive cou... ORPHA:31204
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis OMIM:178550
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, Respirator... ORPHA:98913
Proximal Spinal Muscular Atrophy
Inability to walk, Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Diffic... ORPHA:70
Sarcoidosis, Susceptibility To, 1
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegaly, Mediastinal... OMIM:181000
Myopathy, Myosin Storage, Autosomal Recessive
Loss of ambulation, Right axis deviation, Respiratory insufficiency, Dilated cardiomyopathy, Elev... OMIM:255160
Triosephosphate Isomerase Deficiency
Respiratory distress, Splenomegaly, Respiratory insufficiency, Unsteady gait, Oligohydramnios, Re... OMIM:615512
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:245400
Lymphoproliferative Syndrome 1
Lymphadenopathy, Pericardial effusion, Pleural effusion, Splenomegaly OMIM:613011
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Erdheim-Chester Disease
Joint swelling, Ataxia, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion, Dysp... ORPHA:35687
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Edema, Intestinal lymphangiectasia, Generalized edema, Pleu... ORPHA:90362
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Tip-toe gait, Mitral regurgitation, Respiratory insufficiency, Arrhythmi... ORPHA:746
Thymic Tumor
Palpebral edema, Mediastinal lymphadenopathy, Neoplasm of the thymus, Cough, Edema, Dyspnea, Peri... ORPHA:100100
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Riddle Syndrome
Ataxia, Intraventricular hemorrhage, Conjunctival telangiectasia, Abnormal pulmonary interstitial... ORPHA:420741
Hereditary Angioedema Type 1
Respiratory distress, Intestinal edema, Pharyngeal edema, Facial edema, Tongue edema, Hypotension... ORPHA:100050
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia ORPHA:240103
Laron Syndrome
Hypercholesterolemia ORPHA:633
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Difficulty walking, Respiratory failure OMIM:613954
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Multiple Carboxylase Deficiency
Respiratory distress, Ataxia, Lethargy, Tachypnea ORPHA:148
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory insufficiency, Respiratory failure OMIM:276950
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Gait ataxia OMIM:612075
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Ataxia, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stri... OMIM:211530
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... ORPHA:99103
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Ataxia, Pulmonic stenosis, Mitral regurgitation, Central hypoventila... ORPHA:70474
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios, Atrial flutter, Atrial fibrillation, First degree atriovent... OMIM:160900
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... OMIM:619662
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Truncal ataxia, Exertional dyspnea, Hypertrophic cardiomyopathy, Re... OMIM:220110
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia ORPHA:79237
Respiratory failure, Cardiomyopathy ORPHA:79327
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Dysmetria, Gait ataxia, Respiratory failure, Steppage gait OMIM:616505
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia, Ataxia, Splenomegaly OMIM:608799
Ovarian Fibrothecoma
Ascites, Pleural effusion ORPHA:314478
Respiratory distress, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Cough, Pneu... ORPHA:1546
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Right bundle branch block, Dyspnea, Atrial fibrillation, Hypertrophic cardiomyop... OMIM:115195
Behçet Disease
Ataxia, Splenomegaly, Mitral regurgitation, Pulmonary embolism, Vasculitis, Cerebral ischemia, Ga... ORPHA:117
Noonan Syndrome 1
Pulmonic stenosis, Chylothorax, Hypertrophic cardiomyopathy, Lymphedema OMIM:163950
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor, Tachypnea OMIM:604320
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular failure, Co... OMIM:178600
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Ataxia OMIM:618426
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pre... ORPHA:275766
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachycardia, Arrhythmia, Tachypnea, Dilated cardiomyopa... ORPHA:26793
Thoracic Dysplasia-Hydrocephalus Syndrome
Ataxia, Respiratory failure ORPHA:1861
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Respiratory insufficiency due to muscle weakness ORPHA:1143
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... OMIM:606763
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis OMIM:108050
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Nonimmune hydrops fetalis, Pleural effusion OMIM:617049
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Choreoathetosis, Lethargy ORPHA:289916
Multiple Acyl-Coa Dehydrogenase Deficiency
Inability to walk, Arrhythmia, Restrictive ventilatory defect, Cardiorespiratory arrest, Dyspnea,... ORPHA:26791
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Tricuspid regurgitation, Systolic heart murmur, Respiratory fa... ORPHA:555874
American Trypanosomiasis
Splenomegaly, Arrhythmia, Myocarditis, Cough, Periorbital edema, Edema, Dyspnea, Lymphadenopathy,... ORPHA:3386
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pleural lymphangiectasia, Pericardial effusion, Lymphedema, Pericardial lymphangiectasia, Periorb... OMIM:235510
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Polyhydramnios,... OMIM:617180
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Ataxia, Cerebral ischemia ORPHA:927
Niemann-Pick Disease, Type C2
Ataxia, Splenomegaly, Respiratory insufficiency, Polyhydramnios, Neonatal respiratory distress, F... OMIM:607625
Kikuchi-Fujimoto Disease
Ataxia, Vasculitis in the skin, Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenom... ORPHA:50918
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Lethargy, Tachypnea ORPHA:79242
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Dyspnea, Atrial fibrillation, Hypertrophi... OMIM:613873
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea OMIM:606071
Respiratory insufficiency, Arrhythmia, Vasculitis, Abnormal pulmonary interstitial morphology, Co... ORPHA:732
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Yellow Nail Syndrome
Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Lymphedema, Bronchiectasis, Dyspnea,... ORPHA:662
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Internal hemorrhage, Pleural effusion, General... ORPHA:244242
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Thymic Carcinoma
Palpebral edema, Mediastinal lymphadenopathy, Neoplasm of the thymus, Cough, Edema, Dyspnea ORPHA:99868
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Inability to walk, Difficulty walking, Respiratory failure, Dystonic gait ORPHA:280210
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Ataxia, Recurrent respiratory infections, Abnormal pulmonary inters... ORPHA:209905
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Bronchial Neuroendocrine Tumor
Asthma, Tricuspid regurgitation, Nonproductive cough, Chronic noninfectious lymphadenopathy, Righ... ORPHA:97287
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Inability to walk, Left ventricular outflow tract obstruction,... ORPHA:365
Hypercholesterolemia ORPHA:263501
Aortic Arch Interruption
Intermittent claudication, Respiratory distress, Blood pressure substantially higher in arms than... ORPHA:2299
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy OMIM:251000
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... ORPHA:412
Sinusitis, Abnormality of the spleen, Lung abscess, Productive cough, Pneumonia, Pleural effusion... ORPHA:228119
Sitosterolemia 1
Elevated circulating sitosterol concentration, Reduced haptoglobin level, Xanthelasma, Hyperchole... OMIM:210250
Fixed Subaortic Stenosis
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... ORPHA:3092
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Amyotrophic Lateral Sclerosis
Dyspnea, Xerostomia, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Chédiak-Higashi Syndrome
Ataxia, Inability to walk, Splenomegaly, Hepatosplenomegaly, Gait disturbance, Edema, Pleural eff... ORPHA:167
Respiratory distress, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Cough, P... ORPHA:509
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Respiratory insufficiency, Arrhythmia, Recurrent lower respiratory tract infec... ORPHA:258
Respiratory distress, Pleural empyema, Abnormality of the spleen, Mediastinal lymphadenopathy, Va... ORPHA:228123
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Episodic Ataxia Type 1
Respiratory distress, Choreoathetosis, Tip-toe gait ORPHA:37612
Splenic abscess, Melena, Sinusitis, Hematemesis, Mediastinal lymphadenopathy, Myocarditis, Hemato... ORPHA:73263
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary lymphangiectasia, Pulmonary insufficiency, Right-to-left shunt, Nonimmune hydrops fetal... OMIM:265380
Inability to walk, Hypovolemic shock, Hypotension, Respiratory failure requiring assisted ventila... ORPHA:2912
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Prolonged QRS complex, Pulmonary edema, Cerebr... ORPHA:90068
Noonan Syndrome 10
Mitral stenosis, Pulmonic stenosis, Mitral regurgitation, Pleural effusion, Hypertrophic cardiomy... OMIM:616564
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Arrhythmia, Dilated cardiomyopathy, Neonatal respiratory distre... OMIM:608836
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Heart murmur, Pedal edema, Ri... ORPHA:97214
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Cough, Recurrent pneumonia, Pleural effusion, Lymphadenopathy, Ascites OMIM:306400
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Chylous ascites, Constrictive pericarditis, Intes... ORPHA:90363
Lysosomal Acid Lipase Deficiency
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... ORPHA:98915
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Choreoathetosis, Respiratory failure, Cardiomyopathy ORPHA:445038
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Systolic heart murm... ORPHA:99095
Congenital Multicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Edema, Pneumonia, Abnormal respiratory system physiology, Respiratory failure, Re... ORPHA:98905
Respiratory distress ORPHA:66637
Congenital Myasthenic Syndrome
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Int... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Tip-toe gait, Int... ORPHA:98914
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Respiratory distress, Aortic valve stenosis, Lower eyelid edema, Mi... ORPHA:363705
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Pneumonia, Recurrent p... ORPHA:3348
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... ORPHA:439
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Dyspnea, Myocarditis, Myocardial infarction, Di... ORPHA:3342
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Cardiorespiratory ... ORPHA:228116
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... OMIM:610910
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Colchicine Poisoning
Respiratory distress, Hypovolemia, Dehydration, Arrhythmia, Cardiogenic shock, Hypotension, Myoca... ORPHA:31824
Severe Congenital Nemaline Myopathy
Polyhydramnios, Pulmonary hypoplasia, Respiratory failure, Edema of the dorsum of hands ORPHA:171430
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysdiadochokinesis, Gait disturbance ORPHA:98805
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... ORPHA:137914
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Tachycardia, Apneic episodes in infancy, Dyspnea, Inter... ORPHA:348
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level ORPHA:2457
Familial Mediterranean Fever
Pleuritis, Pericarditis, Pleural effusion, Splenomegaly OMIM:249100
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Rayn... ORPHA:79128
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Impaired myocardial contractility, Oligohydramnios, Respiratory failure, Cardi... ORPHA:158687
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Ataxia, Bradypnea, Respiratory failure, Cerebral edema OMIM:617186
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Anomalous pulmonary venous return, Left-to-righ... ORPHA:99104
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Splenomegaly, Hepatosplenomegaly, Nonimmune hydrops fetali... OMIM:608013
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Ethylene Glycol Poisoning
Ataxia, Episodic respiratory distress, Pulmonary edema, Tachycardia, Abnormal pattern of respirat... ORPHA:31826
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Inability to walk, Gait ataxia, Hypertrophic cardiomyopathy, Recurrent resp... OMIM:619383
Laryngotracheoesophageal Cleft
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respiratory infections ORPHA:2004
Geleophysic Dysplasia 3
Sleep apnea, Polyhydramnios, Pneumonia, Dyspnea, Respiratory failure OMIM:617809
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Tachycardia, Hyperventilation, Dyspnea, Lethargy OMIM:229700
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Difficulty walking, Dil... OMIM:164310
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Periorbital edema,... ORPHA:141083
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Dysmetria, Episodic hypoventilation, Lethargy, Recurrent respirato... OMIM:301790
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Myocarditis, Pleuritis, Pneumonia, Hypertensive crisis, Generalized edema, Hyper... ORPHA:544482
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Left-to-right s... ORPHA:185
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure OMIM:610678
Respiratory distress ORPHA:370924
Transient ischemic attack, Splenomegaly, Arteritis, Myocarditis, Bronchitis, Pulmonary granulomat... ORPHA:1304
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk, Recurrent bronchopulmonary infections, Splenomegaly, Rec... OMIM:617303
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Dehydration, Polyhydramnios, Choreoathetosis, Recurrent pneumonia, ... OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Immunodeficiency 87 And Autoimmunity
Cervical lymphadenopathy, Oligohydramnios, Third degree atrioventricular block, Dilated cardiomyo... OMIM:619573
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:819
Primary Sclerosing Cholangitis
Splenomegaly, Palmar telangiectasia, Hepatosplenomegaly, Spider hemangioma, Portal hypertension, ... ORPHA:171
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Dilated cardiomyopathy... OMIM:610505
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Polyhydramnios, Neonatal death OMIM:300219