Not currently registered for phenotyping at IMPC

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

Gene Summary

cytochrome P450, family 1, subfamily a, polypeptide 2
CP12,  aromatic compound inducible,  P450-3

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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 Cyp1a2 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 Cyp1a2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Pulmonary Blastoma
Cough, Fever, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Fever, Uppe... ORPHA:60032
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
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
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Fever, Pulmonary infiltrates, ... ORPHA:724
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Fever, Respiratory distress, Cyanosis, I... ORPHA:91359
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Fever, Upper airway ob... ORPHA:3348
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... OMIM:610978
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Perching Syndrome
Respiratory distress, Dysphagia, Fever OMIM:617055
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... ORPHA:2004
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Bronchogenic Cyst
Dysphagia, Pneumonia, Bronchogenic cyst, Cough, Fever, Abnormal pleura morphology, Pulmonary cyst... ORPHA:2357
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Fever, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, ... ORPHA:140896
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... OMIM:268500
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Pleural Mesothelioma
Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal pleura m... ORPHA:50251
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defe... OMIM:610910
Primary Erythromelalgia
Recurrent respiratory infections, Erythema, Hypothermia ORPHA:90026
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Fever, Respiratory ... ORPHA:411703
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Fever, Respiratory distress, Abnormal pulmonary interstitial mor... ORPHA:178320
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Dysphagia, Bronchiolitis, Exertional dyspnea, Pulmonary fibrosis, Atelectasis ORPHA:254361
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Fever, Cyanosis, Decreased DLCO, Restrictive ve... ORPHA:747
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... ORPHA:264675
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Gaucher Disease Type 2
Dysphagia, Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent respiratory in... ORPHA:77260
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Hypothermia, Neonatal... OMIM:245400
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... ORPHA:199241
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Fever, Pleural empyema, Respiratory distres... ORPHA:36238
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Low-grade feve... ORPHA:1164
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... OMIM:614399
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Choanal Atresia
Choking episodes, Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Ab... ORPHA:137914
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Fever, Exertional dyspnea, Combin... ORPHA:723
Spontaneous Periodic Hypothermia
Hypothermia, Abnormal pattern of respiration ORPHA:29822
Nephronophthisis-Like Nephropathy 2
Recurrent fever, Polydipsia, Bronchiectasis, Cough, Pulmonary infiltrates, Recurrent respiratory ... OMIM:619468
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... ORPHA:60025
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Hypothermia, Sleep apnea, Abnormal pattern of respiration ORPHA:168593
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:605809
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... ORPHA:244
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... OMIM:300770
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Feve... ORPHA:90060
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... ORPHA:133
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress, Cough, Fever ORPHA:99825
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Dysphagia OMIM:150260
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress, Hypothermia ORPHA:226313
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Absent outer dynein arms, Chro... OMIM:244400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Hypothermia OMIM:616501
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Fever, Respiratory f... ORPHA:99931
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... OMIM:606763
Anaplastic Thyroid Carcinoma
Dysphagia, Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, ... ORPHA:142
Menkes Disease
Hypothermia, Death in childhood OMIM:309400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency OMIM:601612
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... ORPHA:454836
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Hypothermia ORPHA:95717
Respiratory distress, Fever ORPHA:673
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Pneumothorax, Cough, Fever, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Restrictive ve... ORPHA:538
Autosomal Dominant Hyper-Ige Syndrome
Cough, Fever, Generalized abnormality of skin, Recurrent respiratory infections, Atelectasis ORPHA:2314
Succinic Acidemia
Respiratory distress OMIM:600335
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Abnormality of temperature regulation, Fever, Hypoventilation, Recurrent pneumonia, ... OMIM:618493
Meningococcal Meningitis
Neonatal respiratory distress, Hypothermia, Petechiae, Fever, Purpura ORPHA:33475
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death OMIM:245650
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... ORPHA:1163
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Fever, Respiratory distress, Pulmo... ORPHA:3392
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Congenital Enterovirus Infection
Respiratory distress, Hypothermia, Pleural effusion, Fever ORPHA:292
Lymphoid Interstitial Pneumonia
Wheezing, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, Centrilobular ... ORPHA:79128
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Hypothermia, Tachypnea, Episodic tachypnea, Respiratory distress, Jaundice ORPHA:26793
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Emphysema OMIM:123700
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Cyanosis, Respiratory insufficiency, Hypothermia ORPHA:159
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... OMIM:233450
Permanent Congenital Hypothyroidism
Hypothermia, Jaundice ORPHA:226292
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema, Nasal polyposis OMIM:604571
Ethylene Glycol Poisoning
Episodic respiratory distress, Abnormal pattern of respiration, Hypothermia, Tachypnea, Cyanosis,... ORPHA:31826
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Respiratory distress, Erythema, Upper airway obstruction ORPHA:100057
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Farber Disease
Recurrent fever, Respiratory insufficiency, Respiratory distress, Recurrent upper respiratory tra... ORPHA:333
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Congenital Myasthenic Syndrome
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... ORPHA:98914
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Obstructive sleep apnea, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... OMIM:614742
Thyroid Lymphoma
Dysphagia, Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary inters... OMIM:617180
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infect... OMIM:211530
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... ORPHA:449280
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis ORPHA:464453
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... ORPHA:70578
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Coug... ORPHA:2038
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Dysphagia, Respiratory insufficiency, Cough, Recurrent intrapulmonary hemorrhage, Feve... ORPHA:183
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Hypothermia ORPHA:95716
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Lujo Hemorrhagic Fever
Ecchymosis, Dysphagia, Crackles, Rhinitis, Fever, Respiratory distress, Purpura, Nonproductive co... ORPHA:319213
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Hypothermia, Polyphagia, Polydipsia, Recurrent lower respiratory tract i... ORPHA:293987
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Mitochondrial Dna-Associated Leigh Syndrome
Dysphagia, Episodic respiratory distress, Hypothermia, Apnea, Fever, Dyspnea, Hyperventilation ORPHA:255210
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress, Neonatal respiratory distress OMIM:615042
Anti-Glomerular Basement Membrane Disease
Respiratory insufficiency, Cough, Fever, Pulmonary infiltrates, Purpura ORPHA:375
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Congenital Hypothyroidism
Sinusitis, Angiokeratoma corporis diffusum, Prolonged neonatal jaundice, Hypothermia ORPHA:442
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Breath-Holding Spells
Cyanosis OMIM:607578
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... OMIM:147480
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Cough, Pulmonary fibrosis, Abnormal pleura morphology, Restricti... ORPHA:210136
Glycogen Storage Disease Due To Acid Maltase Deficiency
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Exertiona... ORPHA:365
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Recurrent respiratory infections, Respiratory distress ORPHA:2759
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Tachypnea, Apnea, Fever, Jaundice ORPHA:20
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Death in infancy, Episodic respiratory distress, Episodic hypoventilation, Recurrent r... OMIM:301790
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hyperventilation, Hypothermia OMIM:618775
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Jaundice OMIM:251880
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Fever, Cyanosis, Abnormal mucociliary clearanc... ORPHA:90051
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Cyanosis, Paroxysmal dyspnea, Stridor ORPHA:444013
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Chiari Malformation Type Ii
Cyanosis, Dysphagia, Inspiratory stridor OMIM:207950
Whim Syndrome
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... ORPHA:51636
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Unexplained fevers, Abnormal drinking behavior, Pulmonary arterial... ORPHA:209905
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... OMIM:613812
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Recurrent sinopulmonary infections, Fever, Pulmonary infiltrates, Pulmonary fibrosis OMIM:618394
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Jaundice OMIM:231680
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Dyspnea, Hypothermia ORPHA:230
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency, Hypothermia OMIM:618329
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Fever, Pulmonary infiltrates, Acute infect... ORPHA:73263
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated circulating alkaline phosph... OMIM:214900
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Cyanosis, Pulmonary edema, Recurrent... ORPHA:980
Immunodeficiency 27A
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia, Fever OMIM:209950
Tachypnea, Respiratory distress, Dysphagia, Fever ORPHA:3299
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia, Dysphagia, Aspiration pneumonia ORPHA:99027
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... ORPHA:662
Tetrasomy 5P
Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Recurrent respiratory infections... ORPHA:3309
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis, Anomalous pulmonary venous return, Respiratory failure, Respirato... ORPHA:555874
Neuroleptic Malignant Syndrome
Dysphagia, Hypothermia, Fever, Pulmonary embolism, Aspiration pneumonia ORPHA:94093
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Odontochondrodysplasia 1
Death in infancy, Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Gaucher Disease, Perinatal Lethal
Dysphagia, Petechiae, Neonatal death, Apnea, Respiratory distress, Purpura, Pulmonary hypoplasia OMIM:608013
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Inhalational Anthrax
Respiratory distress, Dyspnea, Fever ORPHA:247257
Arnold-Chiari Malformation Type Ii
Dysphagia, Pneumonia, Apnea, Cyanosis, Inspiratory stridor ORPHA:1136
Short-Rib Thoracic Dysplasia 12
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Atelectasis OMIM:269860
Synaptic Congenital Myasthenic Syndromes
Dysphagia, Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertens... ORPHA:98915
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Pulmonary hypoplasia, Respiratory insufficiency, Repeated pneumothoraces... ORPHA:536467
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Congenital Tracheal Stenosis
Wheezing, Neonatal asphyxia, Abnormal lung lobation, Upper airway obstruction, Respiratory distre... ORPHA:141127
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Pulmonary hypoplasia OMIM:617895
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Alexander Disease
Hypothermia, Dysphagia, Respiratory insufficiency, Sleep apnea ORPHA:58
Legionnaires Disease
Restrictive ventilatory defect, Respiratory insufficiency, Cough, Fever, Pulmonary infiltrates, A... ORPHA:549
Esophageal Atresia
Dysphagia, Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, R... ORPHA:1199
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, ... OMIM:616278
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Apnea, Cardiorespiratory arrest, Intermittent hypothermia OMIM:608643
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Fever, Interco... ORPHA:141083
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Airway obstruction, Abnormal respiratory system physiology, Tachypne... ORPHA:99106
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... OMIM:617394
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea, Hypothermia ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Pulmonary arterial hypertension, Respiratory distress, Pulmonary embolism, Jaundice ORPHA:79282
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Cholesterol gallstones, Elevated circulating alkal... OMIM:600803
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia ORPHA:89844
Emphysema, Respiratory insufficiency ORPHA:436
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea, Hypoxemia, Cyanosis, Anomalous pulmonary venous return ORPHA:860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Respiratory distress, Death in infancy ORPHA:166272
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Hypothermia ORPHA:226316
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cyanosis, Anomalous pulmonary ven... ORPHA:99104
Diffuse Cutaneous Systemic Sclerosis
Dysphagia, Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary infiltrates, Pu... ORPHA:220393
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Hypothermia, Bronchiectasis, Pneumothorax, Abnormal nasal mucosa morphology, Cough, Fever, Upper ... ORPHA:797
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Pulmonary artery atresia ORPHA:3426
Tbck-Related Intellectual Disability Syndrome
Asthma, Respiratory insufficiency, Hypothermia ORPHA:488632
Granulomatosis With Polyangiitis
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... OMIM:608710
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... ORPHA:228119
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Cyanosis... ORPHA:99103
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Drug Reaction With Eosinophilia And Systemic Symptoms
Interstitial pneumonitis, Angioedema, Erythema, Cough, Fever, Pulmonary infiltrates, Dyspnea ORPHA:139402
Hypocomplementemic Urticarial Vasculitis
Angioedema, Cough, Restrictive ventilatory defect, Dyspnea, Airway obstruction, Emphysema, Pleura... ORPHA:36412
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating alkaline... OMIM:619484
Myotonic Dystrophy 1
Respiratory distress, Dysphagia OMIM:160900
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress OMIM:608799
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Hypothermia ORPHA:90673
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Congenital Fibrinogen Deficiency
Cyanosis, Fever, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Letterer-Siwe Disease
Dyspnea, Pulmonary infiltrates, Fever, Jaundice OMIM:246400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Respiratory distress ORPHA:66637
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Aortopulmonary window, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary ... ORPHA:99050
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Fever, Cardiorespiratory arres... ORPHA:228116
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated ... OMIM:235555
Cystic Echinococcosis
Abnormal pulmonary thoracic imaging finding, Urticaria, Multiple pulmonary cysts, Asthma, Pulmona... ORPHA:400
Buerger Disease
Acrocyanosis ORPHA:36258
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... OMIM:602347
Hereditary Angioedema Type 1
Dysphagia, Dermatographic urticaria, Respiratory distress, Urticaria, Dyspnea, Inspiratory stridor ORPHA:100050
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent fever, Dysphagia, Unexplained fevers, Recurrent aspiration pneumonia, Hypothermia, Brui... ORPHA:642
Relapsing Polychondritis
Abnormal pattern of respiration, Erythema, Cough, Purpura, Dyspnea, Atelectasis ORPHA:728
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Respiratory distress, Fever, Jaundice OMIM:274150
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia ORPHA:98805
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Pneumonia, Cough, Fever, Respiratory distress, Nodular pattern on pulmonary HRCT, Dyspnea, Pleura... ORPHA:1546
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia, Erythema, Cough, Respiratory distress, Abnormal pleura morphology, Restric... ORPHA:537
Hsd10 Disease, Infantile Type
Cyanosis, Dysphagia ORPHA:391428
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Fever, Respiratory distress, Nonproductive ... ORPHA:31204
Idiopathic Hypereosinophilic Syndrome
Dysphagia, Angioedema, Cough, Vasculitis in the skin, Fever, Respiratory distress, Cutis marmorat... ORPHA:3260
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... OMIM:181000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:308552
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Oromandibular Dystonia
Respiratory distress, Dysphagia ORPHA:93958
Griscelli Syndrome Type 2
Petechiae, Fever, Pulmonary infiltrates, Premature graying of hair, Jaundice ORPHA:79477
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Renal Dysplasia-Limb Defects Syndrome
Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:266910
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Fever, Respiratory distress, Pulmonary edema, Pulmonary... ORPHA:90068
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Gaucher Disease, Type I
Epistaxis, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pulmonary... OMIM:230800
Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarcinoma, Pulmonary arterial hy... ORPHA:221
Scimitar Syndrome
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial hypertension, Anomal... ORPHA:185
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Bacterial Toxic-Shock Syndrome
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Fever, Respiratory distress, Respiratory tract infec... ORPHA:36234
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Hypothermia ORPHA:90674
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmona... OMIM:178600
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Q Fever
Pneumonia, Cough, Fever, Respiratory distress, Abnormal pulmonary interstitial morphology, Purpur... ORPHA:781
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dysphagia, Obstructive sleep apnea, Hypothermia, Apnea, Breathing dysregulation, Central sleep ap... ORPHA:438213
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... ORPHA:348
Moebius Syndrome
Respiratory distress, Dysphagia OMIM:157900
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Respiratory distress, Recurrent pneumonia, Death in childh... OMIM:617303
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Recurrent fever, Recurrent infections due to as... OMIM:223900
Unilateral Polymicrogyria
Pseudobulbar paralysis, Epistaxis, Apnea, Pulmonary arteriovenous malformation, Cyanosis ORPHA:268943
Netherton Syndrome
Urticaria, Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Cirrhosis, Hepatic failure, Elevated hepatic ... OMIM:607765
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Congenital Disorder Of Deglycosylation 1
Impaired oral bolus formation, Impaired oropharyngeal swallow response, Fever, Central sleep apne... OMIM:615273
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent fever, Erythema, Acrocyanosis, Urticaria, Purpura ORPHA:343
Myasthenia Gravis
Acrocyanosis, Dyspnea, Dysphagia ORPHA:589
Menkes Disease
Prolonged neonatal jaundice, Hypothermia, Spontaneous hematomas ORPHA:565
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Pulmonary arterial hypertension, Respiratory distress, Premature skin wr... ORPHA:363705
Histiocytoid Cardiomyopathy
Tachypnea, Cough, Fever, Cyanosis, Pulmonary edema ORPHA:137675
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Marburg Hemorrhagic Fever
Petechiae, Hypothermia, Fever, Nonproductive cough, Bruising susceptibility, Jaundice ORPHA:99826
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Leigh Syndrome With Cardiomyopathy
Dysphagia, Apnea, Respiratory distress, Central hypoventilation, Respiratory failure ORPHA:70474
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Respiratory distress, Respiratory insufficiency ORPHA:367
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Respiratory distress ORPHA:370924
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Hypothermia OMIM:218700
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... OMIM:610655
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
22Q11.2 Deletion Syndrome
Chronic pulmonary obstruction, Abnormal lung lobation, Purpura, Asthma, Atelectasis ORPHA:567
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Unexplained fevers, Temperature instability ORPHA:206436
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency, Atelectasis ORPHA:534
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
Common Variable Immunodeficiency
Pneumonia, Recurrent bronchitis, Bronchiectasis, Purpura, Restrictive ventilatory defect, Recurre... ORPHA:1572
Occipital Horn Syndrome
Hypothermia, Dysphagia, Bruising susceptibility, Jaundice ORPHA:198
Telangiectasia, Hereditary Hemorrhagic, Type 1
Restrictive ventilatory defect, Hypoxemia, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Spon... OMIM:187300
Waldenström Macroglobulinemia
Respiratory insufficiency, Epistaxis, Fever, Urticaria, Cutis marmorata, Pulmonary infiltrates, P... ORPHA:33226
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Acrocyanosis, ... ORPHA:2905
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates OMIM:607685
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Fever, Acrocyanosis, Purpura, Prolonged neonatal jaundice OMIM:225750
Respiratory distress, Pulmonary edema, Apnea, Hypoventilation ORPHA:79330
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory paralysis, Fever, Respiratory distress, Pulmonary ed... ORPHA:79139
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Pneumonia, Petechiae, Epistaxis, Cough, Fever, Respiratory distress, Pulmonary edema,... ORPHA:340
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Oculopharyngodistal Myopathy 1
Dysphagia, Hypercapnia, Respiratory insufficiency due to muscle weakness, Respiratory distress, A... OMIM:164310
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Respiratory failure, Respiratory distress, Apnea, Respiratory insufficiency OMIM:608836
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Biliary... ORPHA:567983
Tarp Syndrome
Cyanosis, Pulmonary hypoplasia, Apnea ORPHA:2886
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Respiratory failure, Respiratory distress, Prematurely aged appearanc... ORPHA:3342
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia ORPHA:488627
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:220110
Dravet Syndrome
Cyanotic episode ORPHA:33069
Familial Dysautonomia
Acrocyanosis, Recurrent respiratory infections, Abnormal pleura morphology, Malignant hyperthermia ORPHA:1764
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Truncus Arteriosus
Abnormal lung lobation, Tachypnea, Pulmonary artery hypoplasia, Cyanosis, Pulmonary edema, Pulmon... ORPHA:3384
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia ORPHA:2326
Chand Syndrome
Atelectasis ORPHA:1401
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Abnormal pul... OMIM:614748
Congenital Total Pulmonary Venous Return Anomaly
Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous pulmonary venous connection... ORPHA:99125
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Pneumonia, Cough, Fever, Pleural empyema, Respiratory distress, Pulmonary infiltrates, Exudative ... ORPHA:228123
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Hypothermia ORPHA:226307
Alternating Hemiplegia Of Childhood
Dysphagia, Apnea, Respiratory distress, Aspiration, Flushing, Oral-pharyngeal dysphagia ORPHA:2131
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Heat intolerance, Rhinitis, Fever, Respiratory distress, Periorbital wrinkles, Hypohidrotic ectod... OMIM:305100
Aortic Arch Interruption
Tachypnea, Aortopulmonary window, Exertional dyspnea, Cyanosis, Respiratory distress ORPHA:2299
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory insufficiency, Apnea, Cyanosis, Respiratory failure OMIM:252010
Telangiectasia, Hereditary Hemorrhagic, Type 2
Fingerpad telangiectases, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Conj... OMIM:600376
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Neonatal respiratory distress OMIM:217980
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Severe Generalized Junctional Epidermolysis Bullosa
Unexplained fevers, Stridor, Pneumonia, Pneumothorax, Respiratory distress, Fragile skin, Respira... ORPHA:79404
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Granulomatosis With Polyangiitis
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Pleuritis, Epistaxis, Cough,... ORPHA:900
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery ... OMIM:616749
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Stridor, Airway obstruction, Pulmonary arterial hypertension, Respiratory distress, Recurrent res... ORPHA:505248
Campomelic Dysplasia
Respiratory distress, Apnea, Tracheobronchomalacia OMIM:114290
Pneumonia, Fever, Respiratory distress, Respiratory failure, Jaundice ORPHA:533
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema, Bruising susceptibility OMIM:614816
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Pneumonia, Respiratory distress, Urticaria, Recurrent respiratory infec... ORPHA:37042
Adnp Syndrome
Polyphagia, Respiratory distress, Recurrent upper respiratory tract infections, Aspiration, Oral-... ORPHA:404448
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
Cough, Pulmonary hemorrhage, Fever, Respiratory distress, Pleural effusion, Jaundice ORPHA:509
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Majeed Syndrome
Pulmonary infiltrates, Cough, Fever ORPHA:77297
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Sea-Blue Histiocytosis
Pulmonary infiltrates, Petechiae ORPHA:158029
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:79329
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Postinfectious Vasculitis
Palpable purpura, Pneumonia, Vasculitis in the skin, Fever, Acrocyanosis, Cutis marmorata, Recurr... ORPHA:48435
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Ehlers-Danlos Syndrome, Vascular Type
Ecchymosis, Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, R... OMIM:130050
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Tracheomalacia, Emphysema, Pulmonary hypoplasia OMIM:613177
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Fabry Disease
Chronic pulmonary obstruction, Respiratory insufficiency, Conjunctival telangiectasia, Telangiect... ORPHA:324
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Eisenmenger Syndrome
Wheezing, Hypoxemia, Aortopulmonary window, Pulmonary arterial hypertension, Exertional dyspnea, ... ORPHA:97214
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Premature skin wrinkling, Premature graying of hair, Abnormality of the pulmonary artery ORPHA:363618
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Wheezing, Dysphagia, Bronchiectasis, Pneumothorax, Erythema, Cough, Pul... ORPHA:99921
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Rhinitis, Cough, Fever, Generalized abnormality of skin, Respiratory distress, Oral-ph... ORPHA:95455
Tuberous Sclerosis Complex
Generalized abnormality of skin, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Res... ORPHA:805
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Purpura, Hypopnea ORPHA:2330
Primary Sjögren Syndrome
Lymphocytic interstitial pneumonia, Cutis marmorata, Abnormal pulmonary interstitial morphology, ... ORPHA:289390
Malt Lymphoma
Recurrent respiratory infections, Pulmonary infiltrates, Fever ORPHA:52417
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation, Sleep apnea ORPHA:2896
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Pulmonary infiltrates, Pulmonary interstitial lymphocyte infilt... OMIM:606367
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Graft Versus Host Disease
Pulmonary infiltrates, Pneumonia, Jaundice ORPHA:39812
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections ORPHA:177907
Autosomal Recessive Cutis Laxa Type 1
Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumoni... ORPHA:90349
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Acrocyanosis, Vascular skin abnormality ORPHA:349
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema, Tracheobronchomalacia OMIM:616835
Vexas Syndrome
Recurrent fever, Pulmonary infiltrates OMIM:301054
Keutel Syndrome
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinusitis, Pulmona... OMIM:245150
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Upper airway obstruction, Prominent superficial blood vessels, E... ORPHA:740
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Recurrent fever ORPHA:3206
Schinzel-Giedion Syndrome
Respiratory distress, Dysphagia, Pulmonary hypoplasia, Recurrent pneumonia ORPHA:798
Isolated Arrhinia
Respiratory distress ORPHA:1134
Neonatal Marfan Syndrome
Neonatal respiratory distress, Hypoxemia, Emphysema ORPHA:284979
Ear-Patella-Short Stature Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2554
Meier-Gorlin Syndrome 1
Respiratory distress OMIM:224690
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Niemann-Pick Disease Type C
Dysphagia, Respiratory insufficiency, Pulmonary infiltrates, Abnormal lung morphology, Respirator... ORPHA:646
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Dysphagia, Asthma ORPHA:466943
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Erythema ORPHA:2556
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress OMIM:616268
Gitelman Syndrome
Salt craving, Respiratory distress, Polydipsia ORPHA:358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Tachypnea, Cough, Abnormal pulmonary interstitial morphology, Respirat... OMIM:613658
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Respiratory distress, Fever, Acute infectious pneumonia ORPHA:707
Cleidocranial Dysplasia
Respiratory distress, Neonatal respiratory distress OMIM:119600
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Pulmonary hypoplasia, Respiratory distress ORPHA:3404
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Behçet Disease
Pleuritis, Fever, Pulmonary infiltrates, Pulmonary embolism, Pleural effusion ORPHA:117
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia OMIM:219721
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Pulmonary arterial hypertension, Fever ORPHA:51608
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiectasis, Bronchiolitis, Prematurely aged appearance,... ORPHA:90348
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Unexplained fevers, Acrocyanosis ORPHA:51
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema OMIM:614437
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pulmonary artery stenosis, Respiratory distress ORPHA:2255
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Reduced subcutaneous adipose tissue, Pneumothorax OMIM:154700
Autoimmune Lymphoproliferative Syndrome
Urticaria, Bruising susceptibility, Pulmonary fibrosis, Pulmonary infiltrates ORPHA:3261
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax ORPHA:558
Rubinstein-Taybi Syndrome 1
Respiratory distress, Recurrent upper respiratory tract infections, Obstructive sleep apnea OMIM:180849
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability