Gene: Sox6 MGI:98368

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SRY (sex determining region Y)-box 6
Synonyms:
N/A

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 Sox6 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.

The table below shows human diseases associated to Sox6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tolchin-Le Caignec Syndrome
Clinodactyly of the 5th finger, Arachnodactyly OMIM:618971

The table below shows human diseases predicted to be associated to Sox6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Death in childhood, Respiratory failure, Central apnea, Respiratory insufficiency OMIM:611722
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Succinic Acidemia
Respiratory distress OMIM:600335
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Pyknoachondrogenesis
Stillbirth OMIM:265880
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Perching Syndrome
Respiratory distress OMIM:617055
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough ORPHA:50251
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency OMIM:300717
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Dyspnea, Late inspiratory crackles, Exertional dyspnea,... ORPHA:2302
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Cardiomyopathy, Familial Hypertrophic, 15
Dyspnea OMIM:613255
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Gaucher Disease Type 2
Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pattern of respiration, Restrictive ventilatory defect, Respiratory insufficiency, Cough ORPHA:724
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Respiratory failure, Neonatal respiratory distress ORPHA:168486
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Alpha-1-Antitrypsin Deficiency
Chronic pulmonary obstruction, Wheezing, Dyspnea, Panacinar emphysema OMIM:613490
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Hyperekplexia 4
Respiratory failure OMIM:618011
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Cough, Dyspnea, Decreased DLCO OMIM:234810
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Idiopathic Bronchiectasis
Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emphysema, Acute infectious pneu... ORPHA:60033
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:178500
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Reduced vital... ORPHA:98913
Malaria
Respiratory distress ORPHA:673
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Decreased DLCO, Atelect... ORPHA:79126
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea OMIM:616414
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor OMIM:604320
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Upper airway obstruction, Stridor ORPHA:142
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Pulmonary arterial hypertension ORPHA:1164
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen desaturation on exertion, ... OMIM:610978
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Dyspnea, Decreased pulmonary function, Cough, Reduced ... ORPHA:133
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Neonatal respiratory distress, Stridor, Aspiration ORPHA:2004
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Scedosporiosis
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... ORPHA:449280
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Respiratory insufficiency, Stridor, Nocturnal hypoventilation OMIM:211530
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Odontochondrodysplasia
Death in infancy, Respiratory distress ORPHA:166272
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Respiratory insufficiency, Rh... OMIM:614874
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Respirato... ORPHA:244
Stt3B-Cdg
Respiratory distress ORPHA:370924
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress ORPHA:464453
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Tularemia
Pleural effusion, Cough, Pneumonia, Respiratory distress ORPHA:3392
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Snakebite Envenomation
Respiratory failure, Epistaxis, Respiratory paralysis ORPHA:449285
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Geleophysic Dysplasia 3
Dyspnea, Sleep apnea, Respiratory failure, Pneumonia OMIM:617809
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Intestinal Botulism
Dyspnea, Death in infancy, Respiratory insufficiency due to muscle weakness ORPHA:178481
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Multiple Synostoses Syndrome 1
Short hallux, Fusion of midphalangeal joints, Dislocated radial head, Aplasia/Hypoplasia of the m... OMIM:186500
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Respiratory distress, Pneumothorax OMIM:266910
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:608836
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia OMIM:610910
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology ORPHA:98905
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation ORPHA:70474
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:555874
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Sternum, Premature Obliteration Of Sutures Of
Short sternum OMIM:184800
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia ORPHA:314655
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Death in infancy OMIM:301790
Boutonneuse Fever
Respiratory failure ORPHA:83313
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency OMIM:609015
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory failure, Asthma, Recurrent pneum... ORPHA:209905
Thymoma, Familial
Respiratory insufficiency OMIM:274230
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Respiratory failure, Respiratory insufficiency OMIM:610505
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Congenital Myasthenic Syndrome
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Apneic episodes precip... ORPHA:98914
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Atelectasis, Intercostal muscle weakness, Respiratory... ORPHA:258
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Exertional dyspnea OMIM:220110
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Diaphanospondylodysostosis
Tracheomalacia, Respiratory distress, Respiratory insufficiency OMIM:608022
Infantile Krabbe Disease
Respiratory failure, Respiratory distress ORPHA:206436
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Respiratory distress OMIM:619272
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Niemann-Pick Disease, Type C2
Respiratory failure, Respiratory insufficiency OMIM:607625
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Respiratory insufficiency, Resp... ORPHA:365
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Moebius Syndrome
Respiratory distress OMIM:157900
Otopalatodigital Syndrome, Type Ii
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:304120
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency ORPHA:367
Nocardiosis
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Produ... ORPHA:31204
Riddle Syndrome
Chronic sinusitis, Restrictive ventilatory defect, Recurrent sinusitis, Pneumonia, Neonatal asphy... ORPHA:420741
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Rodrigues Blindness
Nasal flaring OMIM:268320
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Respiratory distress, Tracheomalacia OMIM:217980
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Arterial Tortuosity Syndrome
Dyspnea, Respiratory failure, Cardiorespiratory arrest, Respiratory distress ORPHA:3342
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Respiratory distress, Recurrent pneumonia OMIM:617303
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Episodic tachypnea, Pneumonia, Respiratory distress ORPHA:26793
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Hereditary Angioedema Type 1
Inspiratory stridor, Dyspnea, Respiratory distress ORPHA:100050
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Respiratory distress OMIM:114290
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Respi... ORPHA:2020
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress OMIM:608013
Farber Disease
Respiratory distress, Respiratory insufficiency, Atelectasis ORPHA:333
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Biotinidase Deficiency
Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Tetrasomy 5P
Pulmonary arterial hypertension, Respiratory distress ORPHA:3309
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency OMIM:252010
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Cryptococcosis
Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia ORPHA:1546
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2554
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress OMIM:612852
Bacterial Toxic-Shock Syndrome
Respiratory distress, Tachypnea, Pneumonia, Sinusitis ORPHA:36234
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory distress, Irregular respiration, Respiratory paralysis ORPHA:79139
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Sepsis In Premature Infants
Dyspnea, Decreased pulmonary function, Abnormal mucociliary clearance, Nasal flaring ORPHA:90051
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Tachypnea, Pneumothorax, Hyperventilation ORPHA:90068
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Stridor, Airway obstruction, Respiratory distress ORPHA:505248
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Neonatal asphyxia, Upper airway obstruction ORPHA:141127
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Stridor, Pneumothorax ORPHA:79404
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Bloom Syndrome
Chronic pulmonary obstruction, Respiratory failure, Pneumonia, Rhinitis ORPHA:125
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Tracheomalacia, Respiratory insufficiency, ... ORPHA:536467
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Respiratory distress ORPHA:210122
Isolated Arrhinia
Respiratory distress ORPHA:1134
Craniorachischisis
Bifid sternum ORPHA:63260
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Aspiration ORPHA:2131
Q Fever
Pleural effusion, Cough, Pneumonia, Respiratory distress ORPHA:781
Listeriosis
Respiratory failure, Pneumonia, Respiratory distress ORPHA:533
Toxic Epidermal Necrolysis
Cough, Respiratory distress, Restrictive ventilatory defect ORPHA:537
Abetalipoproteinemia
Respiratory failure ORPHA:14
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Cough, Pulmonary embolism, Asthma ORPHA:3260
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation ORPHA:255210
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2556
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia ORPHA:647
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Pneumonia, Interstitial pneumonitis ORPHA:37042
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Respiratory distress ORPHA:79282
Congenital Disorder Of Deglycosylation
Central sleep apnea, Respiratory distress OMIM:615273
Costello Syndrome
Tracheomalacia, Respiratory insufficiency, Respiratory failure, Obstructive sleep apnea, Pneumoth... OMIM:218040
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Respiratory failure, Recurrent pneumonia ORPHA:731
Tuberous Sclerosis Complex
Respiratory failure, Respiratory distress ORPHA:805
Coccidioidomycosis
Respiratory distress, Cough, Exudative pleural effusion, Pneumonia, Pleural empyema ORPHA:228123
Adnp Syndrome
Respiratory distress, Aspiration ORPHA:404448
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress ORPHA:17
Meier-Gorlin Syndrome 1
Respiratory distress OMIM:224690
Prader-Willi Syndrome Due To Translocation
Respiratory distress ORPHA:177907
Niemann-Pick Disease Type C
Respiratory failure, Aspiration pneumonia, Respiratory insufficiency ORPHA:646
Cleidocranial Dysplasia
Neonatal respiratory distress, Respiratory distress OMIM:119600
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Arboleda-Tham Syndrome
Neonatal respiratory distress, Respiratory distress OMIM:616268
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Restrictive ventilatory defect, Respiratory failure ORPHA:96334
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Ulbright-Hodes Syndrome
Respiratory failure, Respiratory distress, Pneumothorax ORPHA:3404
Kasabach-Merritt Syndrome
Hypopnea, Respiratory distress ORPHA:2330
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory distress, Respiratory acidosis OMIM:614748
Stüve-Wiedemann Syndrome
Apnea, Asthma, Respiratory distress ORPHA:3206
Scimitar Syndrome
Pulmonary arterial hypertension, Cough, Respiratory distress, Pneumothorax ORPHA:185
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress OMIM:306955
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Asthma ORPHA:466943
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Pneumonia, Chron... ORPHA:95455
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia ORPHA:798
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Narrow iliac wing, Short metacarpal, Bifid sternum, Tapered finger,... OMIM:303600
Gitelman Syndrome
Respiratory distress ORPHA:358
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Respiratory failure ORPHA:500150
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Pulm... ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Respiratory failure requiring assisted ventilation, Apn... ORPHA:99125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress ORPHA:83617
Leptospirosis
Pleural effusion, Cough, Respiratory distress ORPHA:509
Doors Syndrome
Aspiration pneumonia, Respiratory distress ORPHA:79500
Rubinstein-Taybi Syndrome 1
Obstructive sleep apnea, Respiratory distress OMIM:180849
Plague
Acute infectious pneumonia, Respiratory distress ORPHA:707
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress ORPHA:2255
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress ORPHA:480880
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Respiratory distress ORPHA:51608
8Q24.3 Microdeletion Syndrome
Respiratory distress ORPHA:508488
Alström Syndrome
Restrictive ventilatory defect, Chronic pulmonary obstruction, Respiratory distress, Recurrent si... ORPHA:64
Pmm2-Cdg
Aspiration pneumonia, Respiratory distress ORPHA:79318
Tolchin-Le Caignec Syndrome
Clinodactyly of the 5th finger, Arachnodactyly OMIM:618971

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sox6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sox6.

No publications found that use IMPC mice or data for Sox6.

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MGI Allele Allele Type Produced
Sox6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sox6tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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