Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
serine/threonine kinase 40
Synonyms:
2310004N11Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Stk40 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 Stk40 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Pulmonary Blastoma
Weight loss, Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Failure to thrive, Cough, Respiratory distress,... OMIM:263000
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Upper airway obstruct... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... OMIM:610921
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... OMIM:265120
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Weight loss, Hypersen... ORPHA:2902
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Crackles, Bronchie... ORPHA:79126
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Isolated Congenital Hypoglossia/Aglossia
Weight loss, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Maternal diabetes, Atelectasis, Transient pulmonary infiltrates, Pneumothora... ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Pleural Mesothelioma
Abnormal respiratory system physiology, Weight loss, Cough, Respiratory distress, Abnormal lung m... ORPHA:50251
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Ground-glass op... ORPHA:1302
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... OMIM:610978
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... OMIM:268500
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respir... ORPHA:264675
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... OMIM:610910
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Idiopathic Bronchiectasis
Wheezing, Productive cough, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec... ORPHA:60033
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Weight loss, Cough, Respir... ORPHA:411703
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Diabetes mellitus, Acute infectious pneumonia, Chronic lu... ORPHA:140896
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis OMIM:615993
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Failure to thrive, Ground-glass opacification, Cough, Respiratory distress,... ORPHA:91359
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... ORPHA:2357
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia, Failure to thrive OMIM:614096
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... ORPHA:199241
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Failure to thrive, Ground-glass opacif... OMIM:300770
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Weight loss, Cough, Cyanosis, Decreased DLCO, Restrict... ORPHA:747
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pulmonary fibrosis, Exertional dyspnea, Atelectasis, Bronchiolitis ORPHA:254361
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Failure... ORPHA:2257
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... ORPHA:2004
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Exertional dyspnea, ... ORPHA:723
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, A... ORPHA:1164
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cough, Abnormal pattern of respiration ORPHA:77260
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... ORPHA:60025
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia, Small for gestational age OMIM:616733
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency, Patent ductus arteriosus OMIM:601612
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Cyanosis ORPHA:91130
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... ORPHA:244
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Weight loss, Ground-glass opacification... ORPHA:90060
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Patent ductus arteriosus, Decreased peak expirato... ORPHA:95430
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Stridor, Weight loss, Cough, Upper airway obstruction, Respiratory distress... ORPHA:142
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Failure to thrive, Respiratory failure, Respiratory distress, Restrict... OMIM:614399
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Slc35A1-Cdg
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Respiratory insufficiency, Respiratory insufficiency due to muscle ... ORPHA:254875
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Failure to thrive, Ground-glass opacification, Cough, P... ORPHA:99931
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress OMIM:615595
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Subpleural interstitial thickening, Crackles, Bronchiectasis, Failure to thr... ORPHA:79128
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Tracheomalacia, Recurrent respi... OMIM:617180
Ciliary Dyskinesia, Primary, 1
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent bronchitis, Chronic si... OMIM:244400
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal glucose homeostasis, Cough, Respiratory failure, Dyspnea, Respiratory failure requiring ... ORPHA:90117
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Emphysema OMIM:123700
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Niemann-Pick Disease, Type B
Dyspnea, Recurrent respiratory infections, Diffuse reticular or finely nodular infiltrations OMIM:607616
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Respiratory distress, Death in childhood OMIM:615597
Perching Syndrome
Respiratory distress OMIM:617055
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia, Recurrent re... OMIM:606763
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Obstructive sleep apnea, Crackles, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... OMIM:614742
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Diabetic ketoacidosis, Abnormal blood gas level, Pulmonary edema, Pulmonary... ORPHA:70578
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... ORPHA:454836
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloody bronchoalveolar lavage fluid, Crac... OMIM:233450
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress, Cough ORPHA:99825
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... ORPHA:1163
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Respiratory distress, Ketotic hypoglycemia ORPHA:26792
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Pulmonary infiltrates, Cough, Bronchiectasis OMIM:619468
Lymphangioleiomyomatosis
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Recurrent respiratory infections, Pulmonary ... ORPHA:538
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Recurrent respiratory infections, Cough, Atelectasis ORPHA:2314
Tularemia
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... ORPHA:3392
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Cough, Abnormal pleura morphology, Pulmonary fibrosis, Restricti... ORPHA:210136
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Farber Disease
Respiratory insufficiency, Failure to thrive, Respiratory distress, Recurrent upper respiratory t... ORPHA:333
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmonary hemorrhag... ORPHA:2038
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Neonatal death, Glycosuria, Respiratory distress, Pulmonary hypoplasia, Hepatic per... OMIM:231680
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
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... ORPHA:449280
Tetrasomy 5P
Failure to thrive, Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Recurrent res... ORPHA:3309
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Pulmonary arterial hypertension, Aortopulmonary window, Anomalous origin of le... ORPHA:99050
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Maternal diabetes, Small for gestational age, Tachypnea, Failure to thrive, Patent duc... ORPHA:860
Succinic Acidemia
Respiratory distress OMIM:600335
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Patent ductus arteriosus, Cyanosis, ... ORPHA:980
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616867
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Recurrent respiratory infections ORPHA:2759
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia OMIM:224410
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Pulmonary hypoplasia OMIM:617895
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Small for gestational age, Tachypnea, Cyanosis, Anomalous pulmonary venous return, Res... ORPHA:555874
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Recurren... ORPHA:258
Hypophosphatasia
Failure to thrive in infancy, Emphysema, Respiratory insufficiency ORPHA:436
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infections, Noctu... OMIM:211530
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Atelosteogenesis, Type Ii
Death in infancy, Pulmonary hypoplasia, Respiratory insufficiency, Stillbirth OMIM:256050
Whim Syndrome
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... ORPHA:51636
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress, Maternal diabetes, Large for gestational age ORPHA:45452
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Failure to thrive, Respiratory insufficiency due to muscle weakness, E... ORPHA:365
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Odontochondrodysplasia 1
Death in infancy, Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Pleur... ORPHA:662
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Hypoadrenocorticism, Familial
Cyanosis, Apnea, Hypoglycemia OMIM:240200
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Glycosuria, Pulmonary fibrosis, Decreased DLCO, Emphysema OMIM:618913
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Congenital Tracheal Stenosis
Wheezing, Pulmonary artery atresia, Abnormal lung lobation, Patent ductus arteriosus, Upper airwa... ORPHA:141127
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Respiratory distress, Erythema, Upper airway obstruction ORPHA:100057
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Weight loss, Cough, Recurrent intrapulmonary hemorrhage, Ac... ORPHA:183
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Pulmonary artery atresia, Failure to thrive ORPHA:3426
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis ORPHA:464453
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus ORPHA:2596
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Abnormal respiratory system physiology, Tachypnea, Failure to thrive... ORPHA:99106
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Failure to thrive, Elevated pulmonary artery pressure, Pulmonary v... ORPHA:1329
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress OMIM:237310
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Stridor, Failure to thrive, Cyanosis, Respiratory failure ORPHA:444013
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Failure to thrive, Recurrent bronchopulmonary infections, Recurrent pneumonia, Em... OMIM:242700
Immunodeficiency 27A
Weight loss, Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia OMIM:209950
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Failure to thrive, Respiratory insufficiency due to muscle weakness, R... ORPHA:308552
Esophageal Atresia
Failure to thrive in infancy, Chronic pulmonary obstruction, Episodic respiratory distress, Laryn... ORPHA:1199
Cystic Echinococcosis
Abnormal pulmonary thoracic imaging finding, Weight loss, Urticaria, Multiple pulmonary cysts, As... ORPHA:400
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hypoglycemia, Apnea, Cyanosis, Impaired gluconeogenesis OMIM:261680
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary sequestration, Patent ductus arteriosus, Pulm... ORPHA:2847
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Neonatal death, Patent ductus arteriosus, Pulmonary hypoplasia, Atelec... OMIM:269860
Bronchial Neuroendocrine Tumor
Wheezing, Facial telangiectasia, Pneumonia, Dermatological manifestations of systemic disorders, ... ORPHA:97287
Gaucher Disease, Perinatal Lethal
Petechiae, Neonatal death, Apnea, Respiratory distress, Purpura, Decreased body weight, Pulmonary... OMIM:608013
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Neonatal respiratory distress OMIM:615042
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Respiratory insufficiency, Pulmonary hypoplasia, Repeated pneumothoraces... ORPHA:536467
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Pneumonia, Small for gestational age, Tachypnea, Episodic tachypnea, Re... ORPHA:26793
Malaria
Respiratory distress ORPHA:673
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Failure to thrive, Atelectasis OMIM:618278
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency OMIM:255320
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Recurrent respiratory infections, Death in infancy, Episodic respirator... OMIM:301790
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Small for gestational age ORPHA:621
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pulmonary infiltrates, Pulmonary fibrosis, Bronchiectasis OMIM:618394
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Pulmonary hypoplasia, Stillbirth OMIM:236500
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Pulmonary fibrosis OMIM:612852
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Granulomatosis With Polyangiitis
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... OMIM:608710
Zygomycosis
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Pulmonary infiltrates, Diabetes mellitus, ... ORPHA:73263
Scimitar Syndrome
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial hypertension, Pulmon... ORPHA:185
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cyanosis, Anomalous pulmonary ven... ORPHA:99104
Breath-Holding Spells
Cyanosis OMIM:607578
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Respiratory distress, Recurrent respiratory infections ORPHA:329178
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Respiratory distress OMIM:618426
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Gaucher Disease, Type I
Epistaxis, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pulmonary... OMIM:230800
Renal Dysplasia-Limb Defects Syndrome
Maternal diabetes, Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Pulmo... OMIM:266910
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Respiratory di... ORPHA:209905
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress, Patent ductus arteriosus, Failure to thrive OMIM:608799
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Cyanosis... ORPHA:99103
Legionnaires Disease
Respiratory insufficiency, Cough, Pulmonary infiltrates, Abnormal lung morphology, Abnormal pleur... ORPHA:549
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Arnold-Chiari Malformation Type Ii
Cyanosis, Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Small for gestational age, Cyanosis, Abnormal ... ORPHA:90051
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress ORPHA:261304
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema, Neonatal hypoglycemia OMIM:261740
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Thanatophoric Dysplasia
Pulmonary hypoplasia, Respiratory insufficiency, Patent ductus arteriosus ORPHA:2655
Lujo Hemorrhagic Fever
Ecchymosis, Crackles, Rhinitis, Respiratory distress, Purpura, Nonproductive cough, Atelectasis ORPHA:319213
Drug Reaction With Eosinophilia And Systemic Symptoms
Interstitial pneumonitis, Angioedema, Weight loss, Erythema, Cough, Pulmonary infiltrates, Dyspnea ORPHA:139402
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary infiltrates, Pulmonary fib... ORPHA:220393
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Recurr... ORPHA:98915
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmona... OMIM:178600
Ethylene Glycol Poisoning
Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Cyanosis, Pulmonary ed... ORPHA:31826
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Angioedema, Cough, Restrictive ventilatory defect, Dyspnea, Emphysema, Pleura... ORPHA:36412
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus ORPHA:166272
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Fusariosis
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... ORPHA:228119
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Weight loss, A... ORPHA:2905
Toxic Epidermal Necrolysis
Weight loss, Erythema, Cough, Respiratory distress, Abnormal pleura morphology, Restrictive venti... ORPHA:537
Common Variable Immunodeficiency
Failure to thrive in infancy, Pneumonia, Bronchiectasis, Recurrent bronchitis, Purpura, Restricti... ORPHA:1572
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Weight loss, Pleuritis, Respiratory distress, Nonprodu... ORPHA:31204
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Dermatomyositis
Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarcinoma, Weight loss, Pulmonar... ORPHA:221
Interstitial Lung And Liver Disease
Hypoxemia, Respiratory insufficiency, Failure to thrive, Cough, Abnormal pulmonary interstitial m... OMIM:615486
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Q Fever
Pneumonia, Weight loss, Cough, Respiratory distress, Abnormal pulmonary interstitial morphology, ... ORPHA:781
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress, Large for gestational age ORPHA:226313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress ORPHA:79312
Tarp Syndrome
Failure to thrive, Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, Elevated bronchoa... OMIM:181000
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia, Stillbirth OMIM:615415
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Fasting hypoglycemia, Hypoglycemia, Episodic tachypnea, Neonatal hypo... ORPHA:348
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Weight loss ORPHA:79242
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Sudden episodic apnea, Respiratory insufficiency,... ORPHA:159
Truncus Arteriosus
Abnormal lung lobation, Tachypnea, Pulmonary artery hypoplasia, Patent ductus arteriosus, Cyanosi... ORPHA:3384
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Patent ductus arteriosus, Respiratory distress, Recurrent ... OMIM:617303
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Glucose intolerance, Impaired glucose tolerance, Failure to thrive OMIM:614407
Matthew-Wood Syndrome
Failure to thrive, Pulmonary hypoplasia, Abnormal lung morphology ORPHA:2470
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Purpura, Cough, Respiratory insufficiency ORPHA:375
Stt3B-Cdg
Failure to thrive, Respiratory distress ORPHA:370924
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia, Respiratory insufficiency ORPHA:994
Histiocytoid Cardiomyopathy
Hypoglycemia, Tachypnea, Failure to thrive, Cough, Cyanosis, Pulmonary edema ORPHA:137675
Meier-Gorlin Syndrome 4
Failure to thrive, Emphysema OMIM:613804
Cryptococcosis
Pneumonia, Cough, Respiratory distress, Nodular pattern on pulmonary HRCT, Dyspnea, Pleural effusion ORPHA:1546
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Pulmonary artery atresia, Patent ductus arteriosus OMIM:618316
Netherton Syndrome
Urticaria, Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Idiopathic Hypereosinophilic Syndrome
Angioedema, Failure to thrive, Cough, Vasculitis in the skin, Respiratory distress, Cutis marmora... ORPHA:3260
22Q11.2 Deletion Syndrome
Chronic pulmonary obstruction, Abnormal lung lobation, Failure to thrive, Patent ductus arteriosu... ORPHA:567
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Bacterial Toxic-Shock Syndrome
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Respiratory distress, Respiratory tract infection ORPHA:36234
Congenital Total Pulmonary Venous Return Anomaly
Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous pulmonary venous connection... ORPHA:99125
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress ORPHA:927
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress ORPHA:544503
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Abnormal pul... OMIM:614748
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Pulmonary edema, Pulmonary infilt... ORPHA:90068
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cyanotic episode ORPHA:284417
Joubert Syndrome 21
Dyspnea, Apnea, Pulmonary hypoplasia OMIM:615636
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Failure to thrive, Respiratory insufficiency due to muscle weakness, Glycosuria, Exertional dyspn... OMIM:220110
Relapsing Polychondritis
Abnormal pattern of respiration, Erythema, Cough, Purpura, Dyspnea, Atelectasis ORPHA:728
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... OMIM:610655
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Respiratory distress, Respiratory insufficiency, Failure to thrive ORPHA:367
Familial Isolated Restrictive Cardiomyopathy
Pulmonary venous hypertension, Pulmonary edema, Recurrent respiratory infections, Orthopnea, Dyspnea ORPHA:75249
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea, Failure to thrive ORPHA:2707
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Weight loss, Cough, Pleural empyema, Dyspnea, Pleural effusion ORPHA:67
Buerger Disease
Acrocyanosis ORPHA:36258
Mogs-Cdg
Pulmonary edema, Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Pulmonary arterial hypertension, Large for gestational age, Patent ductu... ORPHA:363705
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive, Patent ductus arteriosus ORPHA:3304
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Apnea, Pulmonary arteriovenous malformation ORPHA:268943
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Cardiorespiratory arrest, Pulm... ORPHA:228116
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion, Small for gestational age OMIM:616897
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Respiratory insufficiency, Failure to thrive, Recurrent respiratory infections,... ORPHA:534
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia ORPHA:2326
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Recurrent infections due to aspiration OMIM:223900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Hyperglycemia, Recurrent lower respiratory tract infections, Central hyp... ORPHA:293987
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Spontaneous, recurrent epistaxis, Pu... OMIM:187300
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Pneumonia, Petechiae, Epistaxis, Cough, Respiratory distress, Pulmonary edema, Decrea... ORPHA:340
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Interstitial pneumonitis, Pneumonia, Urticaria, Respirato... ORPHA:37042
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Pulmonary infiltrates, Pulmonary interstitial lymphocyte infiltrati... OMIM:606367
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616866
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory infections in early life ORPHA:96179
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... ORPHA:141083
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Aortic Arch Interruption
Tachypnea, Aortopulmonary window, Patent ductus arteriosus, Exertional dyspnea, Cyanosis, Respira... ORPHA:2299
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Failure to thrive in infancy, Respiratory tract infection, Pulmonary hypoplasia, Respiratory insu... OMIM:618975
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus OMIM:300968
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:608149
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Mgat2-Cdg
Failure to thrive, Respiratory distress, Recurrent upper and lower respiratory tract infections, ... ORPHA:79329
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Telangiectasia of the skin, Respiratory distress, Prematurely aged app... ORPHA:3342
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress ORPHA:50810
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Meacham Syndrome
Death in infancy, Neonatal death, Stillbirth, Patent ductus arteriosus, Cardiac total anomalous p... OMIM:608978
Leigh Syndrome With Cardiomyopathy
Failure to thrive, Apnea, Respiratory distress, Central hypoventilation, Respiratory failure ORPHA:70474
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Hypoglycemia, Respiratory insufficiency, Failure to thrive, Apnea, Cyanosis, Re... OMIM:252010
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery ... OMIM:616749
Familial Dysautonomia
Acrocyanosis, Recurrent respiratory infections, Abnormal pleura morphology ORPHA:1764
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Tracheomalacia, Emphysema, Pulmonary hypoplasia OMIM:613177
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Waldenström Macroglobulinemia
Respiratory insufficiency, Epistaxis, Urticaria, Cutis marmorata, Pulmonary infiltrates, Purpura,... ORPHA:33226
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pneumonia, Failure to thrive, Pneumothorax, Respiratory distress, Renal tubular epitheli... ORPHA:79404
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory paralysis, Respiratory distress, Pulmonary edema, Ir... ORPHA:79139
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory insufficiency, Apnea, Respiratory distress, Respiratory failure, Nonketotic hypoglycemia OMIM:608836
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Telangiectasia, Hereditary Hemorrhagic, Type 2
Fingerpad telangiectases, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Conj... OMIM:600376
Meckel Syndrome, Type 6
Pulmonary hypoplasia OMIM:612284
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Decreased body weight, Central sleep apnea OMIM:615273
Microphthalmia, Syndromic 9
Respiratory insufficiency, Patent ductus arteriosus, Bilateral lung agenesis, Agenesis of pulmona... OMIM:601186
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypoglycemia, Failure to thrive, Apnea, Patent ductus arteriosus, Respiratory distress, Recurrent... ORPHA:17
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplas... OMIM:208500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Stridor, Pulmonary arterial hypertension, Patent ductus arteriosus, Respiratory distress, Recurre... ORPHA:505248
Myasthenia Gravis
Acrocyanosis, Dyspnea, Glycosuria ORPHA:589
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Urticaria, Dyspnea, Inspiratory stridor ORPHA:100050
Granulomatosis With Polyangiitis
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Epistaxis, Pleu... ORPHA:900
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Stuve-Wiedemann Syndrome 1
Respiratory insufficiency, Pulmonary arterial medial hypertrophy, Apnea, Pulmonary arterial hyper... OMIM:601559
Moebius Syndrome
Respiratory distress OMIM:157900
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Cachexia, Failure to thrive ORPHA:206436
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Respiratory distress, Cyanosis, Patent ductus arteriosus OMIM:306955
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pulmonary hypoplasia OMIM:615503
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Small for gestational age, Failure to thrive, Respiratory distress... OMIM:260400
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia ORPHA:85201
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Pulmonary hypoplasia, Respiratory failure requiring assisted ... OMIM:619351
Graft Versus Host Disease
Failure to thrive, Pulmonary infiltrates, Pneumonia, Jaundice ORPHA:39812
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Pulmonary hypoplasia OMIM:611812
Oculopharyngodistal Myopathy 1
Hypercapnia, Respiratory insufficiency due to muscle weakness, Weight loss, Respiratory distress,... OMIM:164310
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates OMIM:607685
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Respiratory distress OMIM:251110
Campomelic Dysplasia
Failure to thrive, Respiratory distress, Apnea, Tracheobronchomalacia OMIM:114290
Dravet Syndrome
Cyanotic episode ORPHA:33069
Coccidioidomycosis
Pneumonia, Cough, Pleural empyema, Respiratory distress, Pulmonary infiltrates, Exudative pleural... ORPHA:228123
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema, Bruising susceptibility OMIM:614816
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2519
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Respiratory insufficiency ORPHA:1865
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Small for gestational age, Failure to thrive, Recurrent respiratory infect... OMIM:616835
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Respiratory distress OMIM:251100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Neonatal respiratory distress, Patent ductus arteriosus OMIM:217980
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Respiratory distress, Jaundice OMIM:274150
Malt Lymphoma
Weight loss, Recurrent respiratory infections, Pulmonary infiltrates ORPHA:52417
Chand Syndrome
Atelectasis ORPHA:1401
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Letterer-Siwe Disease
Dyspnea, Pulmonary infiltrates, Jaundice OMIM:246400
Postinfectious Vasculitis
Palpable purpura, Pneumonia, Weight loss, Vasculitis in the skin, Acrocyanosis, Cutis marmorata, ... ORPHA:48435
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss, Cough, Pulmonary infiltrates ORPHA:77297
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Mosaic Trisomy 16
Maternal diabetes, Small for gestational age, Patent ductus arteriosus, Abnormal lung morphology,... ORPHA:1708
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory distress, Respiratory tract infection, Pulmonary lym... ORPHA:805
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Patent ductus arteriosus OMIM:612863
Chronic Graft Versus Host Disease
Wheezing, Bronchiolitis obliterans, Airway obstruction, Bronchiectasis, Pneumothorax, Weight loss... ORPHA:99921
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Pulmonary hypoplasia ORPHA:1848
Caudal Regression Sequence
Pulmonary hypoplasia, Maternal diabetes ORPHA:3027
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia, Small for gestational age ORPHA:2260
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe failure to thrive, Patent ductus arteriosus ORPHA:1051
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Griscelli Syndrome Type 2
Pulmonary infiltrates, Premature graying of hair, Petechiae, Jaundice ORPHA:79477
Distal Tetrasomy 15Q
Pulmonary hypoplasia, Large for gestational age, Patent ductus arteriosus ORPHA:314588
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Obesity, Patent ductus arteriosus ORPHA:177907
Peroxisome Biogenesis Disorder 1A (Zellweger)
Prolonged neonatal jaundice, Pulmonary hypoplasia, Patent ductus arteriosus, Failure to thrive OMIM:214100
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia, Small for gestational age, Patent ductus arteriosus OMIM:619148
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Pulmonary hypoplasia, Erythema OMIM:308050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory insufficiency, Patent ductus arteriosus OMIM:616300
Eisenmenger Syndrome
Wheezing, Hypoxemia, Pulmonary arterial hypertension, Aortopulmonary window, Patent ductus arteri... ORPHA:97214
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Premature skin wrinkling, Premature graying of hair, Abnormality of the pulmonary artery ORPHA:363618
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Alternating Hemiplegia Of Childhood
Failure to thrive, Apnea, Respiratory distress, Aspiration, Flushing ORPHA:2131
Primary Sjögren Syndrome
Lymphocytic interstitial pneumonia, Cutis marmorata, Abnormal pulmonary interstitial morphology, ... ORPHA:289390
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Failure to thrive, Pulmonary arterial hypertension, Respiratory distress, Pulmonary... ORPHA:79282
Listeriosis
Respiratory failure, Respiratory distress, Pneumonia, Jaundice ORPHA:533
Thoracoabdominal Syndrome
Pulmonary hypoplasia, Patent ductus arteriosus OMIM:313850
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Urticaria, Erythema, Purpura ORPHA:343
Leptospirosis
Pulmonary hemorrhage, Cough, Respiratory distress, Pleural effusion, Jaundice ORPHA:509
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Acrocyanosis, Purpura, Prolonged neonatal jaundice OMIM:225750
Adnp Syndrome
Respiratory distress, Aspiration, Truncal obesity, Recurrent upper respiratory tract infections ORPHA:404448
Ehlers-Danlos Syndrome, Vascular Type
Ecchymosis, Bruising susceptibility, Pneumothorax, Pulmonary bulla, Recurrent intrapulmonary hemo... OMIM:130050
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Fucosidosis
Acrocyanosis, Failure to thrive, Vascular skin abnormality ORPHA:349
Autosomal Recessive Multiple Pterygium Syndrome
Failure to thrive, Neonatal respiratory distress, Pulmonary hypoplasia ORPHA:2990
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Respiratory insufficiency, Small for gestational age, Tachypnea, Failure to thrive,... OMIM:613658
Autosomal Recessive Cutis Laxa Type 1
Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumoni... ORPHA:90349
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Neonatal Marfan Syndrome
Hypoxemia, Neonatal respiratory distress, Emphysema, Small for gestational age ORPHA:284979
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Failure to thrive, Patent ductus arteriosus, Respiratory distress, Pul... ORPHA:2255
Ulbright-Hodes Syndrome
Maternal diabetes, Pneumothorax, Respiratory distress, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
Meier-Gorlin Syndrome 7
Decreased body weight, Pulmonary hypoplasia OMIM:617063
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus OMIM:613309
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:958
Fontaine Progeroid Syndrome
Death in infancy, Recurrent aspiration pneumonia, Respiratory insufficiency, Small for gestationa... OMIM:612289
Pitt-Hopkins Syndrome
Abnormal pattern of respiration, Failure to thrive, Acrocyanosis, Sleep apnea, Hyperventilation ORPHA:2896
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia, Large for gestational age, Patent ductus arteriosus OMIM:614080
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Sea-Blue Histiocytosis
Pulmonary infiltrates, Petechiae ORPHA:158029
Schinzel-Giedion Syndrome
Respiratory distress, Failure to thrive in infancy, Pulmonary hypoplasia, Recurrent pneumonia ORPHA:798
Keutel Syndrome
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinusitis, Pulmona... OMIM:245150
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Raine Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:259775
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Weight loss, Pulmonary arterial hypertension, Upper airway obstruction, Promi... ORPHA:740
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia