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Gene: Sox6 MGI:98368

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Sox6 (1 diseases)
Human diseases predicted to be associated with Sox6 (434 diseases)

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	Matching phenotypes	Source
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Succinic Acidemia	Respiratory distress	OMIM:600335
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death	OMIM:611890
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea	OMIM:615228
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Perching Syndrome	Respiratory distress	OMIM:617055
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation	OMIM:620326
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Hyperekplexia 4	Respiratory failure	OMIM:618011
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Malaria	Respiratory distress	ORPHA:673
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona...	ORPHA:98913
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis	OMIM:620296
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Hypoventilation, Breathing dysregulation	OMIM:618232
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Respiratory insufficiency, Exertional dyspnea	OMIM:614370
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Alg1-Cdg	Respiratory failure	ORPHA:79327
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure	ORPHA:1194
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C...	ORPHA:244
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Snakebite Envenomation	Respiratory failure, Respiratory paralysis, Epistaxis	ORPHA:449285
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest	ORPHA:26791
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa...	OMIM:608836
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Respiratory failure, Pneumonia	ORPHA:98905
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Neonatal death	OMIM:231680
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Severe Congenital Nemaline Myopathy	Respiratory failure	ORPHA:171430
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,...	ORPHA:258
Moebius Syndrome	Respiratory distress	OMIM:157900
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Neonatal death	OMIM:608013
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress	OMIM:619383
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia	ORPHA:496641
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa...	ORPHA:420741
Rodrigues Blindness	Nasal flaring	OMIM:268320
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
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, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent pneumonia, Death in childhood	OMIM:617303
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood	OMIM:618278
Joubert Syndrome 21	Dyspnea, Respiratory failure, Chronic sinusitis, Apnea	OMIM:615636
Craniofaciofrontodigital Syndrome	Respiratory distress, Dyspnea, Pulmonary arterial hypertension	ORPHA:363705
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration	ORPHA:506
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension	ORPHA:3309
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia	OMIM:607143
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction	OMIM:100800
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:252010
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As...	ORPHA:2020
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure	ORPHA:254528
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Japanese Encephalitis	Respiratory distress, Respiratory paralysis, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Lujo Hemorrhagic Fever	Respiratory distress, Nonproductive cough, Rhinitis, Crackles	ORPHA:319213
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Bloom Syndrome	Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure	ORPHA:125
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema	OMIM:613658
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory...	ORPHA:536467
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction	ORPHA:505248
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Craniorachischisis	Bifid sternum	ORPHA:63260
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Respiratory failure	OMIM:300868
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough	ORPHA:537
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress	OMIM:123790
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Mgat2-Cdg	Respiratory distress	ORPHA:79329
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion	ORPHA:3260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2556
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea	ORPHA:17
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Nijmegen Breakage Syndrome	Respiratory failure, Recurrent pneumonia	ORPHA:647
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:79282
Prader-Willi Syndrome Due To Translocation	Respiratory distress	ORPHA:177907
Myhre Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:139210
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Steinert Myotonic Dystrophy	Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat...	ORPHA:273
Adnp Syndrome	Respiratory distress, Aspiration	ORPHA:404448
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax	ORPHA:731
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect	ORPHA:96334
Costello Syndrome	Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency	OMIM:218040
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency, Aspiration pneumonia	ORPHA:646
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Recurrent aspiration pneumonia	OMIM:616268
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure	ORPHA:2636
Congenital Disorder Of Deglycosylation 1	Respiratory distress	OMIM:615273
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:304120
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Respiratory failure, Emphysema	ORPHA:500150
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia	ORPHA:798
Rubinstein-Taybi Syndrome 1	Respiratory distress	OMIM:180849
Gitelman Syndrome	Respiratory distress	ORPHA:358
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress	OMIM:306955
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Leptospirosis	Respiratory distress, Pleural effusion, Cough	ORPHA:509
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
8Q24.3 Microdeletion Syndrome	Respiratory distress	ORPHA:508488
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress	ORPHA:480880
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension	ORPHA:51608
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Alström Syndrome	Respiratory distress, Chronic pulmonary obstruction, Recurrent pneumonia, Restrictive ventilatory...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Aspiration pneumonia	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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Sox6^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sox6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sox6^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sox6^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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