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Gene: Ptges3 MGI:1929282

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prostaglandin E synthase 3
Synonyms:
p23 cochaperone,  sid3177,  5730442A20Rik,  Tebp,  Ptges,  cPGES

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptges3 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 Ptges3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Edema, Neonatal respiratory distre... OMIM:267450
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... ORPHA:2302
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... OMIM:616726
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Atopic dermatitis, Crackles, Parenchymal consolidation, Wheezing, At... ORPHA:2902
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... OMIM:610978
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia, Upp... ORPHA:3348
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pulmonary infiltrates, Hypoxemia, Nonproductive cough, Pleural empyema, Con... ORPHA:36238
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxemia, Respi... ORPHA:70587
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Ground-glass opacification, Intr... OMIM:619611
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Lethargy ORPHA:79283
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... ORPHA:2357
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... OMIM:178550
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Developmental And Epileptic Encephalopathy 40
Hyaline membranes, Lethargy OMIM:617065
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... OMIM:612387
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis ORPHA:254361
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress, P... OMIM:619003
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Diffuse reticular or finely nodular infiltrations, Groun... ORPHA:91359
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... ORPHA:133
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Neonatal death, Edema, Redundant neck skin OMIM:610498
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Pallor, Crackles, Reticular pattern on ... ORPHA:99931
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... ORPHA:217563
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Lethargy OMIM:605711
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Eczema, Cough, Atelectasis, Pruritus, Skin ulcer, Skin vesicle, Recurrent respiratory ... ORPHA:2314
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... ORPHA:244
Mitochondrial Complex I Deficiency, Nuclear Type 3
Respiratory insufficiency, Lethargy OMIM:618224
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Death in adolescence, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Tularemia
Respiratory distress, Pulmonary infiltrates, Skin rash, Confusion, Cough, Abnormal pulmonary thor... ORPHA:3392
Pneumocystosis
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial ... ORPHA:723
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Respiratory insufficiency, Coma, Lethargy ORPHA:28
Typhoid
Coma, Skin rash, Abnormal pulmonary interstitial morphology, Cough, Epistaxis, Lethargy ORPHA:99745
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Lethargy, Cough ORPHA:163703
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Coma, Lethargy, Confusion OMIM:237310
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Ground-glass opacification, Wheez... ORPHA:1302
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Death in childhood, Bradykinesia, Lethargy OMIM:618683
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Lethargy ORPHA:254857
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... OMIM:620014
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Lethargy OMIM:618228
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Polyhydramnios, Atelectasis, Death in infancy OMIM:300219
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Chronic rhinitis, Atelectasis, Recurrent bronchitis, Ciliary dyskinesia, Chronic... OMIM:244400
Methylmalonic Acidemia With Homocystinuria
Lethargy, Skin rash ORPHA:26
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Pulmonary hypoplasia OMIM:617194
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Drowsiness, Coma, Lethargy ORPHA:276608
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness, Sh... OMIM:300580
Glut1 Deficiency Syndrome 1
Confusion, Paroxysmal lethargy, Lethargy OMIM:606777
Evans Syndrome
Petechiae, Pallor, Dyspnea, Epistaxis, Lethargy ORPHA:1959
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy, Lethargy OMIM:614299
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Lethargy, Central apnea ORPHA:71277
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy OMIM:618225
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Gaba-Transaminase Deficiency
Death in childhood, Lethargy OMIM:613163
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Glycine Encephalopathy
Death in infancy, Lethargy OMIM:605899
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Respiratory failure, Neonatal death OMIM:301021
Aspergillosis
Asthma, Sinusitis, Pulmonary infiltrates, Chronic pulmonary obstruction, Hypersensitivity pneumon... ORPHA:1163
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness ORPHA:276556
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Nonimmune hydrops fetalis, Hydrops fetalis, Pulmonary hypoplasia OMIM:613124
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Niemann-Pick Disease, Type B
Diffuse reticular or finely nodular infiltrations, Abnormal pulmonary interstitial morphology, De... OMIM:607616
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... ORPHA:79128
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Elevated pulmonary artery... ORPHA:199241
Lymphangioleiomyomatosis
Pulmonary infiltrates, Chylopericardium, Chylothorax, Cough, Atelectasis, Lymphedema, Restrictive... ORPHA:538
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Petechiae, Respiratory insufficiency, Pleural effusion, Asci... OMIM:617397
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Lethargy OMIM:617900
Lujo Hemorrhagic Fever
Respiratory distress, Facial edema, Coma, Skin rash, Nonproductive cough, Maculopapular exanthema... ORPHA:319213
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness ORPHA:276575
Multiple Carboxylase Deficiency
Respiratory distress, Coma, Skin rash, Tachypnea, Lethargy ORPHA:148
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Scedosporiosis
Unusual skin infection, Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pleuritis, B... ORPHA:449280
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... ORPHA:50251
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency, Lethargy OMIM:618226
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness ORPHA:276580
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Pulmonary infiltrates, Recurrent respiratory infections, Cough OMIM:619468
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness ORPHA:324575
Dengue Fever
Petechiae, Skin rash, Pruritus, Cardiorespiratory arrest, Ascites, Epistaxis, Lethargy ORPHA:99828
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Lethargy OMIM:613002
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Scaling skin, Pruritus, Orthokeratotic hyperkeratosis OMIM:617571
Perching Syndrome
Respiratory distress OMIM:617055
Holocarboxylase Synthetase Deficiency
Respiratory distress, Coma, Eczema, Perioral eczema, Tachypnea, Lethargy ORPHA:79242
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Thyroid Dyshormonogenesis 1
Dry skin, Lethargy OMIM:274400
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood, Intrauterine growth retardation OMIM:615597
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Recurrent respiratory ... OMIM:301790
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Tachypn... ORPHA:454836
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Farber Disease
Respiratory distress, Joint swelling, Nodular pattern on pulmonary HRCT, Diffuse reticular or fin... ORPHA:333
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Lethargy OMIM:619386
Meningococcal Meningitis
Petechiae, Skin rash, Drowsiness, Purpura, Reduced consciousness/confusion, Neonatal respiratory ... ORPHA:33475
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia OMIM:274210
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in childhood, Pulmonary arterial hypertension, Death in infancy, Lethargy OMIM:619064
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Coma, Delirium, Confusion, Drowsiness, Lethargy, Loss of consciousness ORPHA:927
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cough, Tachypnea, Respiratory failure OMIM:263000
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Lethargy ORPHA:324581
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pneumonia, Hypoxemia, Dyspnea, ... ORPHA:70578
Cholera
Miscarriage, Aspiration pneumonia, Palmoplantar cutis laxa, Dehydration, Tachypnea, Hyperventilat... ORPHA:173
Cyclic Vomiting Syndrome
Pallor, Lethargy OMIM:500007
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal thickening, Ox... ORPHA:60025
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Coma, Lethargy ORPHA:79312
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Myxedema
Dry skin, Lethargy OMIM:255900
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Hypoventilation, Lethargy OMIM:618232
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Lethargy ORPHA:49827
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Small for ge... OMIM:616733
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Cough, Atelectasi... OMIM:306400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Respiratory insufficiency, Coma, Lethargy ORPHA:27
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia ORPHA:3032
Citrullinemia Type I
Loss of consciousness, Coma, Lethargy, Tachypnea ORPHA:247525
Scrub Typhus
Skin rash, Cough, Reduced consciousness/confusion, Restrictive ventilatory defect, Dyspnea, Lethargy ORPHA:83317
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Severe Canavan Disease
Lethargy ORPHA:314911
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Fusariosis
Sinusitis, Pulmonary infiltrates, Hypersensitivity pneumonitis, Air crescent sign, Maculopapular ... ORPHA:228119
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Purpura, Pulmonary infiltrates, Cough ORPHA:375
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Coma, Lethargy ORPHA:289916
Renal Tubular Dysgenesis
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia ORPHA:3033
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Coma, Death in childhood, Tachypnea, Respiratory failure, Lethargy OMIM:615838
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Recurrent lower respiratory tract infections, Atelectasis, Aspiration,... ORPHA:258
Hyperlysinuria With Hyperammonemia
Coma, Lethargy OMIM:238750
Stt3B-Cdg
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:370924
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Coma, Hyperventilation, Dyspnea, Lethargy OMIM:229700
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Succinic Acidemia
Respiratory distress OMIM:600335
Propionic Acidemia
Apnea, Coma, Dehydration, Eczema, Tachypnea, Lethargy OMIM:606054
Waardenburg Syndrome Type 3
Atelectasis, Tracheomalacia ORPHA:896
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Neonatal death, Polyhydramnios, Atelectasis, Pulmonary hypoplasia, Ede... OMIM:269860
Pachyonychia Congenita
Respiratory distress, Failure to thrive, Palmar hyperkeratosis, Linear arrays of macular hyperker... ORPHA:2309
Encephalopathy, Recurrent, Of Childhood
Lethargy OMIM:130950
Zygomycosis
Unusual skin infection, Sinusitis, Pulmonary infiltrates, Pustule, Air crescent sign, Acute infec... ORPHA:73263
Granulomatosis With Polyangiitis
Sinusitis, Pulmonary infiltrates, Respiratory insufficiency, Hemosiderin-laden macrophages in bro... OMIM:608710
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Primary Pulmonary Hypoplasia
Apnea, Asthma, Hypoxemia, Tachypnea, Pulmonary hypoplasia, Abnormal breath sound, Restrictive ven... ORPHA:2257
Drug Reaction With Eosinophilia And Systemic Symptoms
Pulmonary infiltrates, Pustule, Skin rash, Interstitial pneumonitis, Erythema, Cough, Angioedema,... ORPHA:139402
Central Diabetes Insipidus
Excessive daytime somnolence, Dehydration, Lethargy ORPHA:178029
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Pulmonary hypoplasia, Oligohydramnios, Stillbirth, Redundant neck skin OMIM:236500
Glycerol Kinase Deficiency
Coma, Lethargy, Loss of consciousness OMIM:307030
Bazex Syndrome
Lung adenocarcinoma, Hyperkeratosis, Scaling skin, Edema, Pruritus, Palmoplantar keratoderma, Par... ORPHA:166113
Holocarboxylase Synthetase Deficiency
Coma, Skin rash, Tachypnea, Hyperventilation, Lethargy OMIM:253270
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure, Pulmo... OMIM:618278
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Xerostomia, Skin ulcer, Dyspnea, Pulmonary arterial hypertension, Pulmonar... ORPHA:220393
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:261304
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Tracheomalacia, Repeated pneumothoraces, Respiratory insufficiency, Atelect... ORPHA:536467
Ogden Syndrome
Excessive daytime somnolence, Pulmonary artery stenosis, Cutis laxa, Lethargy ORPHA:276432
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Isovaleric Acidemia
Dehydration, Coma, Lethargy OMIM:243500
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death, Edema OMIM:253310
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Tachypnea, Pneumo... ORPHA:26793
Goodpasture Syndrome
Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Pallor, Pulmonary hemor... OMIM:233450
Carnitine Deficiency, Systemic Primary
Excessive daytime somnolence, Coma, Confusion, Lethargy OMIM:212140
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy ORPHA:95717
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Lethargy OMIM:611590
Whim Syndrome
Sinusitis, Recurrent upper respiratory tract infections, Atelectasis, Recurrent pneumonia, Pneumo... ORPHA:51636
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration, Coma, Lethargy OMIM:251000
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Growth delay, Pulmo... ORPHA:2414
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exertional dyspnea, Coma, Lethargy, Loss of consciousness ORPHA:42
Pyruvate Dehydrogenase Deficiency
Dyspnea, Lethargy, Tachypnea ORPHA:765
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates, Pruritus OMIM:607685
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Lethargy OMIM:600649
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Weight loss, Stridor ORPHA:142
Thanatophoric Dysplasia
Redundant skin, Respiratory insufficiency, Polyhydramnios, Pulmonary hypoplasia, Increased nuchal... ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia, Death in infancy OMIM:256050
Legionnaires Disease
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Recurrent ph... ORPHA:549
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Death in infancy, Respiratory arrest, Tachypnea OMIM:201475
Riboflavin Deficiency
Lethargy OMIM:615026
Minicore Myopathy With External Ophthalmoplegia
Respiratory insufficiency, Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Recurrent respi... OMIM:255320
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Atelectasis, Respiratory... ORPHA:365
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Coma, Pustule, Confusion, Respiratory tract infection, Pneumon... ORPHA:68
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Neonatal death OMIM:224410
Immunodeficiency 27A
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia OMIM:209950
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Pulmonary infiltrates, Recurrent sinopulmonary infections, Pulmonary fibrosis OMIM:618394
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Waldenström Macroglobulinemia
Pulmonary infiltrates, Pallor, Respiratory insufficiency, Pedal edema, Purpura, Pleural effusion,... ORPHA:33226
Biotinidase Deficiency
Apnea, Skin rash, Recurrent skin infections, Tachypnea, Seborrheic dermatitis, Lethargy OMIM:253260
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Drowsiness, Coma, Lethargy ORPHA:263455
Leukoencephalopathy With Vanishing White Matter
Lethargy OMIM:603896
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Lethargy, Tachypnea OMIM:614857
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, Tachypnea, Wheezing,... ORPHA:1329
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia, Edema ORPHA:93296
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Letterer-Siwe Disease
Pallor, Dyspnea, Pulmonary infiltrates, Seborrheic dermatitis OMIM:246400
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Malaria
Respiratory distress ORPHA:673
Renal Tubular Dysgenesis
Respiratory insufficiency, Oligohydramnios, Pulmonary hypoplasia OMIM:267430
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Coma, Pallor, Dehydration, Tachypnea, Hypoglycemic coma, Edema, Lethargy ORPHA:20
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary infiltrates, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Pulmonary inter... OMIM:606367
Hemochromatosis Type 2
Lethargy ORPHA:79230
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Pulmonary infiltrates, Skin rash, Recurrent intrapulmonary hemorrhage, Respira... ORPHA:183
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Coma, Lethargy OMIM:210200
Histiocytoid Cardiomyopathy
Pulmonary edema, Pallor, Cough, Tachypnea, Drowsiness, Lethargy, Loss of consciousness ORPHA:137675
Central Neurocytoma
Coma, Lethargy ORPHA:73256
Hypercalcemia, Infantile, 1
Dehydration, Lethargy OMIM:143880
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration, Coma, Lethargy OMIM:251110
Carnitine Palmitoyl Transferase 1A Deficiency
Coma, Lethargy, Loss of consciousness ORPHA:156
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Hyperkeratosis, Intrauterine ... OMIM:608013
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Orthopnea, Pedal edema, Pulmonary hypoplasia, Recurrent pne... ORPHA:980
Necrotizing Enterocolitis
Apnea, Ascites, Edema, Lethargy ORPHA:391673
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration, Coma, Lethargy OMIM:251100
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Hydrops fetalis, Respiratory failure, Lethargy OMIM:609015
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Dry skin, Perioral erythema, Perianal erythema, Lethargy OMIM:201100
Galactosemia
Ascites, Lethargy ORPHA:352
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Coma, Cerebral edema, Lethargy OMIM:237300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, Oligohydramnio... OMIM:608836
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Tachypnea OMIM:615751
Dopa-Responsive Dystonia
Lethargy ORPHA:255
Insulinoma
Fluctuations in consciousness, Lethargy, Coma, Reduced consciousness/confusion ORPHA:97279
Fetal Akinesia Deformation Sequence
Excessive daytime somnolence, Polyhydramnios, Respiratory insufficiency, Pulmonary hypoplasia ORPHA:994
Gaucher Disease, Type I
Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Dyspnea, Pulmonary arterial hy... OMIM:230800
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Classic Galactosemia
Ascites, Lethargy ORPHA:79239
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short stature ORPHA:166272
Dihydropyrimidinase Deficiency
Excessive daytime somnolence, Lethargy OMIM:222748
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Death in childhood, Erythema, Cerebral edema, Lethargy OMIM:618321
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Coma, Cerebral edema, Lethargy OMIM:201450
Cystic Echinococcosis
Asthma, Multiple pulmonary cysts, Abnormal subpleural morphology, Abnormal pulmonary thoracic ima... ORPHA:400
Sea-Blue Histiocytosis
Pulmonary infiltrates, Petechiae, Edema ORPHA:158029
Maple Syrup Urine Disease
Coma, Cerebral edema, Lethargy OMIM:248600
Idiopathic Intracranial Hypertension
Lethargy ORPHA:238624
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Susac Syndrome
Confusion, Lethargy ORPHA:838
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Citrullinemia Type Ii
Fluctuations in consciousness, Coma, Delirium, Confusion, Drowsiness, Cerebral edema, Lethargy ORPHA:247585
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Confusion, Lethargy OMIM:238970
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Hyperkeratosis, Failure to thrive in infancy OMIM:612852
Ebola Hemorrhagic Fever
Dyspnea, Maculopapular exanthema, Lethargy, Cough ORPHA:319218
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Coma, Lethargy ORPHA:159
Sim1-Related Prader-Willi-Like Syndrome
Central sleep apnea, Xerostomia, Recurrent respiratory infections, Lethargy, Obstructive sleep apnea ORPHA:398079
Nephronophthisis 2
Respiratory insufficiency, Oligohydramnios, Pulmonary hypoplasia, Respiratory failure OMIM:602088
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Biotinidase Deficiency
Respiratory distress, Apnea, Eczematoid dermatitis, Skin rash, Hyperventilation, Lethargy ORPHA:79241
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Lissencephaly Type Iii And Bone Dysplasia
Polyhydramnios, Pulmonary hypoplasia OMIM:601160
Relapsing Polychondritis
Erythema, Abnormal pattern of respiration, Cough, Atelectasis, Purpura, Dyspnea ORPHA:728
Cirrhosis, Familial
Lethargy, Pulmonary arterial hypertension, Ascites OMIM:215600
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration OMIM:620011
Psoriasis 2
Hyperkeratosis, Parakeratosis, Scaling skin, Psoriasiform dermatitis OMIM:602723
Methylcobalamin Deficiency Type Cble
Excessive daytime somnolence, Drowsiness, Lethargy, Loss of consciousness ORPHA:2169
Carnitine-Acylcarnitine Translocase Deficiency
Cardiorespiratory arrest, Coma, Lethargy OMIM:212138
Familial Thyroid Dyshormonogenesis
Facial edema, Lethargy ORPHA:95716
Resistance To Thyrotropin-Releasing Hormone Syndrome
Dry skin, Lethargy ORPHA:99832
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive OMIM:608799
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Carnitine Palmitoyltransferase I Deficiency
Coma, Lethargy OMIM:255120
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Joint swelling, Inflammatory abnormality of the skin, Pulmonary inf... ORPHA:3260
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Palmoplantar keratoderma, P... OMIM:612281
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Magel2-Related Prader-Willi-Like Syndrome
Sleep apnea, Central sleep apnea, Xerostomia, Lethargy, Recurrent respiratory infections, Obstruc... ORPHA:398069
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Growth delay, Pulmonary arterial hypertension, Failure to thrive OMIM:619272
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Dyspnea, Growth delay, Respiratory failure ORPHA:2707
22Q11.2 Deletion Syndrome
Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Acne, Polyhydramnios, Atelectasis,... ORPHA:567
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Oligohydramnios, Pulmonary hypoplasia OMIM:615415
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Lethargy OMIM:614922
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Mitochondrial Trifunctional Protein Deficiency
Coma, Respiratory insufficiency, Respiratory failure, Lethargy ORPHA:746
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Death in infancy OMIM:241800
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Dehydration, Respiratory insufficiency, Atelectasis, Death in infancy, Skin ulcer... ORPHA:534
Cocaine Intoxication
Respiratory distress, Pulmonary infiltrates, Pulmonary edema, Coma, Delirium, Tachypnea, Wheezing... ORPHA:90068
Granulomatosis With Polyangiitis
Sinusitis, Pulmonary infiltrates, Chronic pulmonary obstruction, Skin rash, Recurrent intrapulmon... ORPHA:900
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Neonatal death OMIM:187600
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Short stature OMIM:617180
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Odontochondrodysplasia 1
Respiratory distress, Mesomelic short stature, Death in infancy, Short stature OMIM:184260
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor OMIM:211530
Severe Congenital Nemaline Myopathy
Polyhydramnios, Pulmonary hypoplasia, Respiratory failure, Edema of the dorsum of hands ORPHA:171430
Sarcoidosis, Susceptibility To, 1
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Cough, Pulmonary ar... OMIM:181000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Death in childhood, Exertional dyspnea, Respiratory fail... OMIM:220110
Maternal Uniparental Disomy Of Chromosome 2
Miscarriage, Pulmonary hypoplasia, Respiratory infections in early life, Neonatal respiratory dis... ORPHA:96179
Primary Sjögren Syndrome
Airway obstruction, Lymphocytic interstitial pneumonia, Nonproductive cough, Xerostomia, Dry skin... ORPHA:289390
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypoglycemic coma, Pulmonary hypoplasia, Neonatal death OMIM:231680
Graft Versus Host Disease
Pulmonary infiltrates, Inflammatory abnormality of the skin, Maculopapular exanthema, Scaling ski... ORPHA:39812
Dermatomyositis
Lung adenocarcinoma, Diffuse reticular or finely nodular infiltrations, Respiratory insufficiency... ORPHA:221
Chand Syndrome
Atelectasis, Dry skin ORPHA:1401
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Pearson Marrow-Pancreas Syndrome
Pallor, Dehydration, Death in childhood, Hydrops fetalis, Erythema, Lethargy OMIM:557000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Majeed Syndrome
Pulmonary infiltrates, Inflammatory abnormality of the skin, Pustule, Cough, Edema, Acne ORPHA:77297
Trichinellosis
Facial edema, Skin rash, Confusion, Edema, Periorbital edema, Excessive daytime somnolence, Reduc... ORPHA:863
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Encephalitis Lethargica
Coma, Hyperventilation, Lethargy ORPHA:83600
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Lethal Congenital Contracture Syndrome Type 1
Polyhydramnios, Pulmonary hypoplasia ORPHA:1486
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia ORPHA:238459
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Coma, Confusion, Lethargy OMIM:607483
Triosephosphate Isomerase Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Death in adolescence, Death i... OMIM:615512
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Oligohydra... OMIM:608022
Aromatic L-Amino Acid Decarboxylase Deficiency
Cardiorespiratory arrest, Apnea, Lethargy OMIM:608643
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Oligohydramnios, Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Coma, Respiratory insufficiency, Death in infancy, Respiratory failure, Lethargy, Cerebral... OMIM:252010
Cutis Laxa, Autosomal Recessive, Type Ic
Cutis laxa, Tracheomalacia, Pulmonary hypoplasia, Periorbital edema, Emphysema, Pulmonary artery ... OMIM:613177
Medulloblastoma
Neoplasm of the lung, Lethargy ORPHA:616
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress ORPHA:226313
Pericardial And Diaphragmatic Defect
Hypoxemia, Pulmonary sequestration, Pulmonary hypoplasia, Neonatal respiratory distress ORPHA:2847
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios, Pulmonary hypoplasia, Neonatal death OMIM:263200
Glycine Encephalopathy
Breathing dysregulation, Respiratory acidosis, Lethargy ORPHA:407
Shwachman-Diamond Syndrome 1
Respiratory distress, Failure to thrive, Steatorrhea, Small for gestational age, Short stature, N... OMIM:260400
Tetrasomy 5P
Respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension, Recurrent respirator... ORPHA:3309
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Dehydration, Hydrops fetalis, Pulmonary embolism, Delirium, Pulmonary arter... ORPHA:79282
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Dry skin, Lethargy ORPHA:90674
Exercise-Induced Malignant Hyperthermia
Delirium, Crackles, Confusion, Dry skin, Tachypnea, Hypocapnia, Lethargy ORPHA:466650
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Chronic Graft Versus Host Disease
Airway obstruction, Pulmonary infiltrates, Bronchiolitis obliterans, Xerostomia, Erythema, Skin u... ORPHA:99921
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Coma, Lethargy, Seborrheic dermatitis OMIM:210210
Symptomatic Form Of Hemochromatosis Type 1
Joint swelling, Lethargy ORPHA:465508
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Skin rash OMIM:277380
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural effusion, Ascites OMIM:616897
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Lethargy ORPHA:395
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Respiratory insufficiency, Edema, Exertional dyspnea, Lethargy ORPHA:254892
Niemann-Pick Disease, Type A
Ascites, Recurrent respiratory infections, Diffuse reticular or finely nodular infiltrations OMIM:257200
Serkal Syndrome
Oligohydramnios, Pulmonary hypoplasia ORPHA:139466
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Exer... ORPHA:98915
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Short stature, Recurrent pneumonia, Neonatal res... ORPHA:209905
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive ORPHA:329178
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency ORPHA:367
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Respiratory failure ORPHA:70474
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Dry skin, Lethargy OMIM:218700
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:312150
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... ORPHA:137914
Craniofaciofrontodigital Syndrome
Respiratory distress, Short stature, Large for gestational age, Dyspnea, Pulmonary arterial hyper... ORPHA:363705
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Griscelli Syndrome Type 2
Pulmonary infiltrates, Petechiae ORPHA:79477
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Pneumothorax, Oligohydramnios, Respir... OMIM:266910
Toxic Epidermal Necrolysis
Respiratory distress, Cough, Acantholysis, Restrictive ventilatory defect, Weight loss ORPHA:537
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia ORPHA:85166
Eisenmenger Syndrome
Respiratory distress, Generalized edema, Wheezing, Pedal edema, Peripheral edema, Ascites, Lethar... ORPHA:97214
Genetic Transient Congenital Hypothyroidism
Lethargy, Edema ORPHA:226316
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Oligohydramnios, Pulmonary hypoplasia OMIM:616866
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Growth delay, Intrauterine growth retardation OMIM:612863
Late-Onset Isolated Acth Deficiency
Dry skin, Lethargy ORPHA:199299
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Pulmonary artery atresia OMIM:618316
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Coccidioidomycosis
Respiratory distress, Pulmonary infiltrates, Folliculitis, Skin rash, Pleural empyema, Parenchyma... ORPHA:228123
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:253290
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Respiratory failure, Cachexia ORPHA:206436
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Miscarriage, Pulmonary hypoplasia, Hydrops fetalis ORPHA:1865
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Digeorge Syndrome
Asthma, Chronic pulmonary obstruction, Recurrent sinusitis, Atelectasis, Recurrent pneumonia, Acn... OMIM:188400
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Intrauterine growth retardation OMIM:616271
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Skin rash ORPHA:79284
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... ORPHA:185
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure requiring... ORPHA:308552
Kniest Dysplasia
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature OMIM:156550
Moebius Syndrome
Respiratory distress OMIM:157900
Renal Hypodysplasia/Aplasia 1
Oligohydramnios, Pulmonary hypoplasia OMIM:191830
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Coma, Confusion, Lethargy, Tachypnea ORPHA:415
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Edema ORPHA:90673
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:590
Marburg Hemorrhagic Fever
Petechiae, Coma, Skin rash, Nonproductive cough, Maculopapular exanthema, Dehydration, Confusion,... ORPHA:99826
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:98914
Citrullinemia, Classic
Coma, Cerebral edema, Lethargy OMIM:215700
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Confusion, Lethargy ORPHA:71212
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Chylothorax, Pleural effusion, Dyspnea, Respiratory f... ORPHA:3015
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Isolated Complex I Deficiency
Respiratory insufficiency, Lethargy ORPHA:2609
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Delirium, Confusion, Lethargy OMIM:277400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Palmoplantar keratoderma ORPHA:1555
Kagami-Ogata Syndrome
Polyhydramnios, Pulmonary arterial hypertension, Pulmonary hypoplasia OMIM:608149
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Coma, Cerebral edema, Lethargy OMIM:311250
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Death in childhood, Recurrent pneumonia OMIM:617303
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Stuve-Wiedemann Syndrome 1
Apnea, Respiratory insufficiency, Oligohydramnios, Pulmonary arterial medial hypertrophy, Pulmona... OMIM:601559
Meckel Syndrome 14
Cardiorespiratory arrest, Pulmonary hypoplasia, Pneumothorax, Oligohydramnios, Increased nuchal t... OMIM:619879
Posterior Urethral Valve
Oligohydramnios, Lethargy ORPHA:93110
Visceral Steatosis, Congenital
Coma, Neonatal death, Lethargy OMIM:228100
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Birth length less than 3rd pe... OMIM:224690
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Orthokeratosis, Erythema, Hyperkeratosis, Pulmonary hypoplasia, Stillbirth, Parakeratosis OMIM:308050
Semilobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Central apnea, Abnormal pattern of respiration, Lethargy ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Central apnea, Abnormal pattern of respiration, Lethargy ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Central apnea, Abnormal pattern of respiration, Lethargy ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Central apnea, Abnormal pattern of respiration, Lethargy ORPHA:93924
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Polyhydramnios, Facial edema, Pulmonary hypoplasia ORPHA:86822
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Congenital alveolar dysplasia, Scimitar anom... OMIM:608978
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hydrops fetalis, Pulmonary hypoplasia OMIM:617022
Argininosuccinic Aciduria
Coma, Cerebral edema, Lethargy OMIM:207900
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... OMIM:164310
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe short stature, Severe failure to thrive ORPHA:1051
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Abnormal respiratory system physiology, Abnorma... ORPHA:90051
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Polyhydramnios, Respiratory insufficiency, Pulmonary hypoplasia, Respiratory tract infection OMIM:618975
Joubert Syndrome 21
Dyspnea, Apnea, Pulmonary hypoplasia OMIM:615636
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Oligohydramnios, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplasia OMIM:611812
Cryptococcosis
Respiratory distress, Nodular pattern on pulmonary HRCT, Cough, Pneumonia, Pleural effusion, Dyspnea ORPHA:1546
Lysinuric Protein Intolerance
Coma, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Lethargy ORPHA:470
Achondrogenesis, Type Ia
Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Stillbirth, Increased nuchal translucency OMIM:200600
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Severe short stature, Respiratory failure, Dyspnea, Grow... ORPHA:2554
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Vexas Syndrome
Pulmonary infiltrates, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin OMIM:301054
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Neonatal short-trunk short stature, Restrictive ventilatory defect OMIM:183900
Familial Hypoaldosteronism
Lethargy ORPHA:427
Microcephaly-Micromelia Syndrome
Oligohydramnios, Pulmonary hypoplasia OMIM:251230
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary infiltrates, Acute respiratory distress syndrome, Severe postnatal growth retardation, ... OMIM:620005
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... OMIM:130050
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Pulmonary hypoplasia, Ascites OMIM:614091
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive, Postnatal growth retardation, Intrauterine growth retard... ORPHA:83617
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Hereditary Fructose Intolerance
Coma, Lethargy ORPHA:469
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Death in childhood, Pulmonary hypoplasia, Redundant neck skin OMIM:214100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Oligohydramnios, Pulmonary hypoplasia, Respiratory failure re... OMIM:619351
Q Fever
Respiratory distress, Cough, Pleural effusion, Pneumonia, Weight loss ORPHA:781
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Behçet Disease