Not currently registered for phenotyping at IMPC

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

Gene Summary

T cell leukemia, homeobox 3
Rnx,  Hox11l2,  Tlx1l2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tlx3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tlx3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ... ORPHA:60032
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Reduced forced vital capacity, Cough, Intercostal retractions, Ta... ORPHA:91359
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... OMIM:265120
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea OMIM:616414
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Parana Hard-Skin Syndrome
Respiratory insufficiency OMIM:260530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Respiratory insufficiency OMIM:617232
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Laryngotracheoesophageal Cleft
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... ORPHA:2004
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Cyanosis, Neonatal death, Tachypnea, Cough, Death in infa... OMIM:610921
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Dysphagia, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Dysphagia, Respiratory insufficiency OMIM:617892
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dysphagia, Dyspn... ORPHA:90117
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... ORPHA:266
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... OMIM:300770
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Cyanosis, R... OMIM:610913
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... ORPHA:2257
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothorax,... ORPHA:454836
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte... OMIM:619751
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... OMIM:604320
Multiple Carboxylase Deficiency
Respiratory distress, Spinal cord posterior columns myelin loss, Tachypnea ORPHA:148
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, ... ORPHA:79126
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Respiratory failure OMIM:618637
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Succinic Acidemia
Respiratory distress OMIM:600335
Joubert Syndrome 7
Neonatal breathing dysregulation, Central apnea, Episodic tachypnea, Tachypnea OMIM:611560
Pontocerebellar Hypoplasia, Type 4
Dysphagia, Respiratory failure, Death in infancy OMIM:225753
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, R... OMIM:611890
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Dysphagia, Respiratory fa... ORPHA:2590
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Dysphagia, Respi... OMIM:614399
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dysphagia, Abnormal respiratory system physiology,... ORPHA:50251
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Gaucher Disease Type 2
Dysphagia, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Apnea, Respiratory insufficiency OMIM:618198
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... OMIM:610978
Ravine Syndrome
Apnea ORPHA:99852
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Larynx Atresia
Respiratory insufficiency ORPHA:1202
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... ORPHA:254875
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Respiratory fai... OMIM:613954
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Cyanosis... ORPHA:2302
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Episodic tachypnea, Apneic episodes in infancy ORPHA:163961
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neonatal pneumothorax, Neo... ORPHA:217563
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Myoclonus, Intractable, Neonatal
Dysphagia, Apnea OMIM:617235
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Decreased DLCO, Cough, Pneumonia, Restrictive ventilatory defect, Hypoxemia, Dyspnea OMIM:610910
Joubert Syndrome 33
Apnea OMIM:617767
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Chiari Malformation Type Ii
Myelomeningocele, Cyanosis, Inspiratory stridor, Dysphagia, Syringomyelia, Spina bifida, Cervical... OMIM:207950
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Dysphagia, Respiratory insufficiency OMIM:616323
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Dysphagia, Respiratory distress, Tachypnea ORPHA:3299
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Apnea, Respiratory insufficiency OMIM:618226
Juvenile Neuronal Ceroid Lipofuscinosis
Dysphagia, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor OMIM:608800
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness OMIM:300717
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea, Syringomyelia ORPHA:137754
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608629
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea ORPHA:3095
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:97285
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Pyruvate Dehydrogenase Deficiency
Dyspnea, Tachypnea ORPHA:765
Citrullinemia Type I
Tachypnea ORPHA:247525
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency OMIM:300673
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Respiratory arrest, Tachypnea OMIM:201475
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Cyanosis, Tachyp... ORPHA:60025
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Abnormal respiratory system physiology, Resp... ORPHA:803
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pattern of respiration, Respiratory insufficiency, Restrictive ventilatory defect, Cough ORPHA:724
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Sleep apnea, Pseudobulbar paralysis, Degeneration of anterior horn... OMIM:105400
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Hyperekplexia 4
Respiratory failure OMIM:618011
Myelomeningocele, Respiratory distress ORPHA:66637
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Respiratory distress ORPHA:673
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea OMIM:220111
Congenital Pulmonary Airway Malformation
Respiratory insufficiency ORPHA:2444
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Wheezing, ... ORPHA:1329
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Erythema, Neonatal death OMIM:610015
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea OMIM:613320
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea OMIM:614857
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in childhood, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Hyperekplexia 3
Apnea OMIM:614618
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea OMIM:615751
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Respiratory failure, Neonatal respiratory distress OMIM:616867
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Propionic Acidemia
Apnea, Tachypnea OMIM:606054
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Intermediate Nemaline Myopathy
Dysphagia, Respiratory failure ORPHA:171433
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:142
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough OMIM:234810
Gaucher Disease, Type Ii
Dysphagia, Apnea, Recurrent aspiration pneumonia OMIM:230900
Rh Deficiency Syndrome
Hypoxemia, Miscarriage, Jaundice, Tachypnea ORPHA:71275
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Dysphagia, Respiratory insufficiency OMIM:616321
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency, Degeneration of anterior horn cells, Abnormal an... ORPHA:1145
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Brachytelephalangic Chondrodysplasia Punctata
Asthma, Cervical cord compression, Central apnea, Respiratory failure requiring assisted ventilat... ORPHA:79345
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Myopathy, Congenital, Nonprogressive
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea ORPHA:747
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:70578
Nemaline Myopathy 2
Dysphagia, Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea OMIM:253270
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:276950
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Erythema, Tachypnea, Livedo reticularis, Telangiectasia OMIM:615934
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Pneumonia, Jaundice ORPHA:26793
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Coronary Arterial Fistula
Exertional dyspnea, Pulmonary arterial hypertension, Orthopnea, Tachypnea ORPHA:2041
Joubert Syndrome With Oculorenal Defect
Apnea, Tachypnea ORPHA:2318
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Exertional dyspn... ORPHA:99106
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Erythema, Angioedema, Res... ORPHA:449285
Hyperparathyroidism, Neonatal Severe
Dyspnea, Polydipsia, Tachypnea OMIM:239200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Apnea, Hypoventilation, Stridor OMIM:617143
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Productive cough, Emphyse... ORPHA:60033
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Pontocerebellar Hypoplasia, Type 16
Dysphagia, Apnea OMIM:619527
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Cyanosis, Inspiratory stridor, Pneumonia, Meningocele, Dysphagia, Syring... ORPHA:1136
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Miscarriage, Aspiration pneumonia, Palmoplantar cutis laxa, Tachypnea, Hyperventilation ORPHA:173
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Cough, Bronchiectasis, Dyspnea OMIM:613490
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Nonproductive cough, Decreased ... ORPHA:79127
Myotonia Fluctuans
Apnea, Stridor, Choking episodes ORPHA:99734
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Joubert Syndrome
Apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:475
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Jaundice, Respiratory insufficiency, Death in childhood, Death in in... OMIM:607625
Interstitial Lung Disease 2
Decreased DLCO, Cough, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension OMIM:178500
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Dysphagia, Dyspnea, Nocturnal hypoventilation, S... OMIM:211530
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Biotinidase Deficiency
Apnea, Tachypnea OMIM:253260
Beta-Ketothiolase Deficiency
Oral aversion, Cough, Tachypnea ORPHA:134
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Cyanosis, Neona... ORPHA:95430
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration OMIM:620011
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effu... ORPHA:199241
Congenital Lethal Erythroderma
Respiratory insufficiency, Urticaria, Death in infancy ORPHA:1954
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea OMIM:606071
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency, Jaundice OMIM:608093
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea ORPHA:31826
Solar Urticaria
Urticaria, Dermatographic urticaria, Wheezing, Angioedema, Dyspnea ORPHA:97230
Pseudo-Torch Syndrome 3
Apnea, Respiratory insufficiency, Death in infancy OMIM:618886
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy OMIM:617186
Triosephosphate Isomerase Deficiency
Respiratory distress, Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy... OMIM:615512
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Tracheomalacia OMIM:245650
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Pontocerebellar Hypoplasia Type 2
Apnea, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:2524
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Illum Syndrome
Apnea OMIM:208155
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Tachypnea, Recurrent aspiration pneumonia, Meningocele ORPHA:397715
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Fatal Familial Insomnia
Dysphagia, Apnea OMIM:600072
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency, Hypercapnia, Apneic episodes in infancy OMIM:618222
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Ecchymosis, Pneumonia ORPHA:36234
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Apnea ORPHA:439218
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... ORPHA:2038
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Apnea OMIM:608809
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Serotonin Syndrome
Tachypnea ORPHA:43116
Arima Syndrome
Occipital meningocele, Dyspnea, Tachypnea OMIM:243910
Respiratory distress ORPHA:370924
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Respiratory distress ORPHA:89844
Intestinal Botulism
Dysphagia, Dyspnea, Death in infancy, Respiratory insufficiency due to muscle weakness ORPHA:178481
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Respiratory distress, Death in infancy ORPHA:166272
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... ORPHA:449280
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Tachypnea ORPHA:423
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... ORPHA:133
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Jaundice, Tachypnea ORPHA:20
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea OMIM:618278
Interstitial Lung Disease 1
Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Nonspecific interstitial pneumon... OMIM:619611
Myotonic Dystrophy 1
Dysphagia, Respiratory distress OMIM:160900
Primary Dystonia, Dyt4 Type
Dysphagia, Respiratory distress ORPHA:98805
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
Joubert Syndrome 1
Neonatal breathing dysregulation, Episodic tachypnea, Occipital myelomeningocele, Central apnea OMIM:213300
Thoraco-Abdominal Enteric Duplication
Respiratory insufficiency, Diastomatomyelia, Meningocele ORPHA:1759
Oromandibular Dystonia
Dysphagia, Respiratory distress ORPHA:93958
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Breath-Holding Spells
Cyanosis OMIM:607578
Proximal Spinal Muscular Atrophy
Hypoventilation, Recurrent aspiration pneumonia, Restrictive ventilatory defect, Neonatal respira... ORPHA:70
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... ORPHA:563
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... OMIM:220110
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Exertional dyspnea, Respiratory insufficiency OMIM:614370
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Respiratory failure ORPHA:79327
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Dysphagia, Death in childhood, Respiratory failure OMIM:619847
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea ORPHA:2299
Cocaine Intoxication
Respiratory distress, Wheezing, Cough, Tachypnea, Hyperventilation, Pneumothorax ORPHA:90068
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Cyanosis ORPHA:159
Joubert Syndrome 2
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608091
Hereditary Angioedema Type 1
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dysphagia, Dyspnea ORPHA:100050
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Episodic respiratory distress, Episodic hypoventilation, Death in infancy OMIM:301790
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Apnea, Respiratory failure OMIM:617301
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Death in childhood, Death in adolescence, Death in infancy OMIM:618042
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Apnea, Death in infancy OMIM:609069
Hypophosphatasia, Infantile
Apnea, Stillbirth, Death in infancy OMIM:241500
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoxemia, Central hypoventilation, Hypercapnia, Nocturnal hypoventilation, Hypoventilation OMIM:209880
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
48,Xxyy Syndrome
Apnea, Asthma ORPHA:10
Goodpasture Syndrome
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... OMIM:233450
Histiocytoid Cardiomyopathy
Cyanosis, Cough, Tachypnea ORPHA:137675
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:613845
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Dysp... ORPHA:98915
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Dysphagia OMIM:608013
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Sepsis In Premature Infants
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... ORPHA:90051
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, Recurren... OMIM:614874
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Central hypoventilation, Dysphagia, Respiratory failure ORPHA:70474
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Severe Congenital Nemaline Myopathy
Dysphagia, Respiratory failure ORPHA:171430
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Upper airway obstruction, Pneumonia, Recurrent pneumonia, Pr... ORPHA:3348
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Pulmonary arterial hypertension, Central apnea OMIM:616482
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Abnormal eating behavior, Recurrent pneumonia, Abnormal drinking be... ORPHA:209905
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Death in infancy, Cutis marmorata OMIM:602613
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... OMIM:616037
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Restrictive ventilatory defect, Dysphagia, Dyspnea, Respiratory failure ORPHA:26791
Evans Syndrome
Petechiae, Jaundice, Bruising susceptibility, Dyspnea, Epistaxis ORPHA:1959
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Death in childhood, Jaundice OMIM:214110
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Respiratory insufficiency ORPHA:93941
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Joubert Syndrome 5
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:610188
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency, Generalized abnormality of skin ORPHA:367
Tetrasomy 5P
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:3309
Toxin-Mediated Infectious Botulism
Dysphagia, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:230800
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Pyruvate Carboxylase Deficiency
Abnormal pattern of respiration, Tachypnea ORPHA:3008
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Hyperventilation ORPHA:79241
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death OMIM:231680
Moebius Syndrome
Dysphagia, Respiratory distress OMIM:157900
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Death in infancy, Neonatal respiratory distress, Respiratory fa... OMIM:608836
Dysphagia, Myelitis, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy, Choking episodes ORPHA:35069
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... ORPHA:99104
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Erythema, Aspiration, Neonatal respiratory distress, Stridor OMIM:614653
Paroxysmal Nocturnal Hemoglobinuria 2
Dyspnea, Urticaria OMIM:615399
Tricuspid Atresia
Cyanosis ORPHA:1209
Joubert Syndrome With Renal Defect
Apnea, Abnormal pattern of respiration ORPHA:220497
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Exercise-Induced Malignant Hyperthermia
Flushing, Crackles, Hypocapnia, Tachypnea ORPHA:466650
Myasthenia Gravis
Dysphagia, Dyspnea, Acrocyanosis ORPHA:589
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Oral aversion, Chroni... ORPHA:1199
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Urticaria, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Dysphag... ORPHA:183
Scorpion Envenomation
Purpura, Erythema, Abnormal nasal mucus secretion, Tachypnea ORPHA:466677
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Dysphagia, Hypoventilation OMIM:619482
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Atrophy of the spinal cord, Apnea ORPHA:395
Telangiectasia, Hereditary Hemorrhagic, Type 4
Spinal arteriovenous malformation, Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent ... OMIM:610655
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Aspiration, Hypoventilation, Dysphagia, Intercostal muscle weakness, P... ORPHA:258
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... OMIM:164310
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia ORPHA:896
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Recurrent sinusitis, Chronic sinusitis, Recurrent pneumoni... ORPHA:420741
Unilateral Polymicrogyria
Apnea, Epistaxis, Pseudobulbar paralysis, Cyanosis ORPHA:268943
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Central apnea ORPHA:529808
Joubert Syndrome With Ocular Defect
Apnea, Abnormal pattern of respiration ORPHA:220493
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Buerger Disease
Acrocyanosis ORPHA:36258
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Flushing, Aspiration, Dysphagia, Oral-pharyngeal dysphagia ORPHA:2131
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy OMIM:183900
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Respiratory distress, Respiratory insufficiency, Tracheomalacia OMIM:608022
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:610505
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted venti... ORPHA:496641
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Dysphagia, Exertional dy... ORPHA:365
Tenorio Syndrome
Apnea, Pneumonia OMIM:616260
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia of the skin, Miscarriage, Spinal arteriovenous malformation, Hemothorax, Lip telan... OMIM:187300
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure ORPHA:445038
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... ORPHA:3342
Craniofaciofrontodigital Syndrome
Respiratory distress, Palmoplantar cutis laxa, Prominent superficial veins, Premature skin wrinkl... ORPHA:363705
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Cyanosis, Death in infancy, Respiratory failure OMIM:252010
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Necrotizing Enterocolitis
Apnea ORPHA:391673
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress ORPHA:329178
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Hyperventilation, Dysphagia, Dyspnea ORPHA:255210
Lethal Acantholytic Erosive Disorder