Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired-like homeobox 2b
Synonyms:
NBPhox,  GENA 269,  Pmx2b,  Phox2b,  Dilp1,  Px2b

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Phox2b mutations

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

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

The table below shows human diseases associated to Phox2b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Phox2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Glaucoma And Sleep Apnea
Sleep apnea OMIM:137763
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Parana Hard-Skin Syndrome
Respiratory insufficiency OMIM:260530
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Respiratory insufficiency OMIM:617232
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Central hypoventilation, Apnea, Respiratory insufficiency OMIM:300673
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure OMIM:263000
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Worster-Drought Syndrome
Abnormal cranial nerve morphology ORPHA:3465
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Lethal Congenital Contracture Syndrome 4
Respiratory insufficiency OMIM:614915
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions, Reduced for... ORPHA:91359
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Maple Syrup Urine Disease
Respiratory insufficiency ORPHA:511
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... ORPHA:39044
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus, Cerebellar hypoplasia, Inferior vermis hypoplasia OMIM:304100
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon, Cerebellar hypoplasia ORPHA:1497
Larynx Atresia
Respiratory insufficiency ORPHA:1202
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Respiratory insufficiency OMIM:617892
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea ORPHA:2004
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Apnea, Pulmonary arte... OMIM:265120
Myasthenic Syndrome, Congenital, 18
Respiratory insufficiency OMIM:616330
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abnormality of enteric ganglion morphology, Enterocolitis OMIM:142623
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hypoventilation, Respiratory insufficiency OMIM:310200
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... ORPHA:90117
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Perry Syndrome
Respiratory arrest, Central hypoventilation, Hypoventilation, Respiratory insufficiency OMIM:168605
Myasthenic Syndrome, Congenital, 8
Respiratory insufficiency OMIM:615120
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis, Dyspnea ORPHA:254509
Burning Mouth Syndrome
Strawberry tongue, Abnormality of somatosensory evoked potentials, Xerostomia, Abnormal fifth cra... ORPHA:353253
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Stridor OMIM:617143
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Perry Syndrome
Central hypoventilation ORPHA:178509
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Intestinal Botulism
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:230800
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Central Hypoventilation Syndrome, Congenital, 1
Hypoxemia, Hypercapnia, Apnea, Central hypoventilation, Hypoventilation, Nocturnal hypoventilation OMIM:209880
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Joubert Syndrome 33
Apnea OMIM:617767
Ravine Syndrome
Apnea ORPHA:99852
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Haddad Syndrome
Central hypoventilation, Death in infancy, Breathing dysregulation, Central sleep apnea ORPHA:99803
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... ORPHA:2302
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, High palate, Facial diplegia, Neonatal death, Abnormal anterior hor... OMIM:611890
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Dyspnea OMIM:211530
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency OMIM:300717
Rigid Spine Muscular Dystrophy 1
Restrictive ventilatory defect, Nocturnal hypoventilation, Reduced vital capacity OMIM:602771
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:610910
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Wound Botulism
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:178475
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Re... OMIM:618781
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Marcus-Gunn Syndrome
Cleft palate, Abnormal fifth cranial nerve morphology ORPHA:91412
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intestinal obstruction, Intestin... OMIM:243180
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Death in infancy OMIM:617248
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Dysphagia, Cerebellar atrophy, Hypogonadotropic hypogonadism, Abnormal upper motor... OMIM:607694
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency OMIM:616314
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Ganglioneuroma
Central hypoventilation ORPHA:251992
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Abnormal cranial nerve morpholog... OMIM:605253
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... ORPHA:723
Congenital Pulmonary Airway Malformation
Respiratory insufficiency ORPHA:2444
Hereditary Neuropathy With Liability To Pressure Palsies
Respiratory insufficiency ORPHA:640
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Stridor, Abnormal pattern of respiration, Apnea, Cardiorespiratory arrest, Bronchospasm OMIM:608800
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Intermittent episodes of respiratory insufficiency due to muscle ... ORPHA:324604
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Death in infancy, Episodic respiratory distress OMIM:301790
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal columns of the spinal c... OMIM:602433
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Respiratory insufficiency, Abnormal pattern of respiration ORPHA:724
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Myopathy, Myofibrillar, 5
Respiratory insufficiency OMIM:609524
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Inhalational Botulism
Mydriasis, Dyspnea ORPHA:254504
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory insufficiency OMIM:618252
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... ORPHA:98915
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Restrictive ventilatory defect, Reduced forced vital capacity, Nocturnal hypoventilation OMIM:607155
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Hyperekplexia 3
Apnea OMIM:614618
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, Apnea, Central sleep apnea ORPHA:168486
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Encephalopathy Due To Prosaposin Deficiency
Death in infancy, Respiratory insufficiency ORPHA:139406
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Motor axonal neuropathy, Amyotrophic lateral sclerosis, Cranial... ORPHA:52430
Foodborne Botulism
Mydriasis, Respiratory insufficiency due to muscle weakness, Cardiorespiratory arrest ORPHA:228371
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Ullrich Congenital Muscular Dystrophy 1
Respiratory insufficiency due to muscle weakness, Nocturnal hypoventilation, Respiratory insuffic... OMIM:254090
Waardenburg Syndrome Type 2
Aganglionic megacolon, Abnormality of the pulmonary artery ORPHA:895
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Botulism
Mydriasis, Respiratory insufficiency ORPHA:1267
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Peripheral axonal neuropathy, Abnormal upper motor neuron morphology OMIM:263570
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Neurotrophic Keratopathy
Diabetes mellitus, Abnormal fifth cranial nerve morphology ORPHA:137596
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Pure Autonomic Failure
Orthostatic hypotension, Abnormality of circulating catecholamine level, Abnormal autonomic nervo... ORPHA:441
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Serotonin Syndrome
Mydriasis, Tachypnea, Abnormality of the autonomic nervous system, Tremor ORPHA:43116
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Peripheral axonal neuropathy, Short-segment aganglionic megacolon OMIM:619465
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Hyperekplexia 4
Respiratory failure OMIM:618011
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Hirschsprung Disease
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyr... ORPHA:388
Infant Botulism
Mydriasis, Dyspnea, Respiratory insufficiency due to muscle weakness, Keratoconjunctivitis sicca ORPHA:178478
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Cyanosis, Decreased DLCO, Nonproductive cough, Re... ORPHA:79126
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis, Esophageal atresia, ... ORPHA:59315
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology OMIM:258470
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Central hypoventilation OMIM:118301
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Respiratory insufficiency OMIM:616321
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Bresek Syndrome
Aganglionic megacolon, Cleft palate, Optic nerve hypoplasia, Neonatal death, Hydrocephalus ORPHA:85284
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus OMIM:613603
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency, Stillbirth OMIM:276950
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue OMIM:174300
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Ondine Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system, Ganglioneuroma ORPHA:661
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... OMIM:245400
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia, Sleep apnea OMIM:618493
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Mydriasis, Abnormal cranial nerve morphology, Pneumoni... ORPHA:79138
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Typical Nemaline Myopathy
Nocturnal hypoventilation, Respiratory insufficiency ORPHA:171436
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea, Erythema OMIM:610015
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... ORPHA:258
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis ORPHA:464453
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea ORPHA:747
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea ORPHA:70578
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Congenital Lethal Erythroderma
Urticaria, Death in infancy, Respiratory insufficiency ORPHA:1954
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Respiratory distress, Central hypoventilation, Apnea ORPHA:70474
Chiari Malformation Type Ii
Dysphagia, Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Gray matter heterotopia, Insp... OMIM:207950
Mitochondrial Complex I Deficiency, Nuclear Type 22
Respiratory insufficiency OMIM:618243
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Optic atrophy ORPHA:411493
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Cap Myopathy
Central hypoventilation ORPHA:171881
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis OMIM:616481
Bone Dysplasia, Lethal, Holmgren Type
Respiratory insufficiency OMIM:211120
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation ORPHA:79330
Succinic Acidemia
Respiratory distress OMIM:600335
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Cyanosis, Paroxysmal dyspnea, Stridor ORPHA:444013
Thoracopelvic Dysostosis
Neonatal respiratory distress OMIM:187770
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Alternating Hemiplegia Of Childhood
Mydriasis, Apnea, Tremor, Respiratory distress, Aspiration, Abnormal autonomic nervous system phy... ORPHA:2131
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Aganglionic megacolon, Tachypnea, Apnea, Cerebellar vermis hyp... ORPHA:2318
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Cleft palate, Abnormal pattern of respiration, Apnea, Cerebellar vermis hy... ORPHA:220497
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Joubert Syndrome
Abnormality of neuronal migration, Aganglionic megacolon, Abnormal pattern of respiration, Apnea,... ORPHA:475
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate, Ventriculomegaly ORPHA:66629
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon, Ganglioneuroma OMIM:613013
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Decreased circulating... OMIM:215470
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology DECIPHER:59
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Amyotrophic Lateral Sclerosis 21
Dysphagia, Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Abnormal lower mot... OMIM:606070
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency OMIM:616325
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Recurrent sinusitis, Cough, Bronchiectasis OMIM:300991
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rhin... OMIM:615451
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon ORPHA:897
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:352447
Joubert Syndrome 7
Tachypnea, Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:611560
Illum Syndrome
Apnea OMIM:208155
Arnold-Chiari Malformation Type Ii
Meningocele, Dysphagia, Abnormality of the medulla oblongata, Myelomeningocele, Pneumonia, Apnea,... ORPHA:1136
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Obstructive sleep apnea, Central sleep apnea ORPHA:70472
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Retinal infarction, Tachypnea, Pulmonary arterial hypertension OMIM:613834
Cocaine Intoxication
Mydriasis, Wheezing, Tachypnea, Pneumothorax, Cough, Tremor, Respiratory distress, Hyperventilation ORPHA:90068
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Respiratory insufficiency OMIM:160565
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea OMIM:606071
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress OMIM:616867
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Respiratory insufficiency, Jaundice OMIM:608093
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency OMIM:606842
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency ORPHA:2111
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Exertional dyspnea, Elevated pulmonary artery pressure, Cyanosis, Decreased DLCO, Hemo... ORPHA:199241
Prader-Willi Syndrome
Hypoventilation, Cutaneous photosensitivity, Sleep apnea OMIM:176270
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate, Abnormal pattern of respiration, Apnea, Cerebellar vermis hy... ORPHA:220493
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency OMIM:612999
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Ventilator dependence with inability to wean, Inspiratory stridor OMIM:604320
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption, Ventriculomegaly ORPHA:452
Attrv122I Amyloidosis
Abnormal autonomic nervous system physiology, Abnormality of enteric nervous system morphology ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Amyotrophic Lateral Sclerosis 2, Juvenile
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper ... OMIM:205100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Pulmonary Hemosiderosis
Respiratory insufficiency OMIM:178550
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... ORPHA:54
Surfactant Metabolism Dysfunction, Pulmonary, 5
Exertional dyspnea, Dyspnea, Respiratory insufficiency OMIM:614370
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Aganglionic megacolon, Increased circulating cortisol level, Medullary thyroid ... OMIM:171400
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Decreased nerve conduction velocity, Achalasia, Cyanosis, Abnormal auton... OMIM:252320
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology, Respirat... ORPHA:2119
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... OMIM:310400
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea ORPHA:99931
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Joubert Syndrome 17
Hyperventilation OMIM:614615
Snakebite Envenomation
Ecchymosis, Angioedema, Epistaxis, Respiratory paralysis, Erythema, Respiratory failure ORPHA:449285
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Abnormal respiratory system physiology, Respiratory insuffici... ORPHA:133
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Central hypoventilation, Cyanosis, Hypoventilation, Cardiorespiratory ar... ORPHA:293987
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Kcnq2-Related Epileptic Encephalopathy
Apnea, Facial erythema ORPHA:439218
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Tracheal Agenesis
Respiratory insufficiency ORPHA:3346
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Cough, Pleural empyema, Cy... ORPHA:2038
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Piebald Trait
Aganglionic megacolon OMIM:172800
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... ORPHA:449280
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Aganglionic megacolon, Ganglion... ORPHA:653
Hyperphosphatasia With Mental Retardation Syndrome 2
Aganglionic megacolon, Cleft palate, Peripheral pulmonary artery stenosis, Anal atresia, Ventricu... OMIM:614749
Amyotrophic Lateral Sclerosis
Respiratory failure, Dyspnea, Abnormal respiratory system physiology ORPHA:803
Arachnoid Cyst
Mydriasis, Cranial nerve compression, Facial palsy ORPHA:2356
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis, Respiratory failure, Respiratory failure requiring assisted venti... ORPHA:555874
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Carbamoyl-Phosphate Synthetase 1 Deficiency
Respiratory insufficiency ORPHA:147
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Fryns Syndrome
Dandy-Walker malformation, Abnormal aortic morphology, Aganglionic megacolon, High palate, Cleft ... ORPHA:2059
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormality of infra-orbital nerve, Abnormal fifth cranial... ORPHA:449563
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... OMIM:221900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis, Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation OMIM:619351
Myotonia Fluctuans
Apnea, Stridor ORPHA:99734
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Cleft palate, Spina bifida ORPHA:894
Joubert Syndrome 3
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea OMIM:608629
Spermatogenic Failure 15
Aspiration OMIM:616950
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insufficiency due to defecti... OMIM:614874
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Macroglossia, Dilated fourth ventricle, Optic nerve hypoplasia, H... ORPHA:370959
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Aganglionic megacolon, High palate, Nodular goiter, Medullary thyroid carcin... OMIM:162300
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Neonatal respiratory distress, Pulmonary arterial hypertension OMIM:619003
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Spinocerebellar Ataxia Type 1
Optic atrophy, Dysphagia, Cerebellar atrophy, Abnormality of somatosensory evoked potentials, Atr... ORPHA:98755
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:616437
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior synechiae of the anterior chamber, Cystoid macular ed... ORPHA:209959
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Olivopontocerebellar atrophy, Cleft palate, Ventriculomegaly OMIM:308205
Breath-Holding Spells
Cyanosis OMIM:607578
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Hypothyroidism, Protruding ... OMIM:190685
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to d... OMIM:616037
Alg1-Cdg
Respiratory failure ORPHA:79327
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Optic atrophy, Aplasia/Hypoplasia of the cerebellum ORPHA:79279
Pituitary Apoplexy
Mydriasis ORPHA:95613
American Trypanosomiasis
Achalasia, Aganglionic megacolon ORPHA:3386
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:602099
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Atypical Rett Syndrome
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea ORPHA:3095
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Peripheral demyelination, Axonal loss, Abnormal upper motor neuron morphology OMIM:221770
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus ORPHA:52503
Pancreatic And Cerebellar Agenesis
Death in infancy, Apnea, Reduced subcutaneous adipose tissue OMIM:609069
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Absent brainstem auditory responses, Decreased nerve conduction velocit... OMIM:609136
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Abnormal parotid gland morphology, Faci... ORPHA:252164
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Hypergonadotropic hypogonadism OMIM:613724
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure, Jaundice ORPHA:731
Joubert Syndrome 8
Prolonged neonatal jaundice, Hyperventilation OMIM:612291
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Waardenburg Syndrome
Aganglionic megacolon, Myelomeningocele, Intestinal obstruction, Abnormality of the gastrointesti... ORPHA:3440
Scorpion Envenomation
Mydriasis, Tachypnea, Miosis, Tremor, Abnormal nasal mucus secretion ORPHA:466677
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:613845
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Axonal loss, Abnormal autonomic nervous system physiology OMIM:614575
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Cyanosis, Respiratory insufficiency ORPHA:159
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion ORPHA:542323
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... ORPHA:563
Frontotemporal Dementia With Motor Neuron Disease
Dysphagia, Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Hypophosphatasia, Infantile
Death in infancy, Apnea, Stillbirth OMIM:241500
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Hyperphosphatasia With Mental Retardation Syndrome 1
Aganglionic megacolon, Cleft palate, Abnormal rectum morphology, Hydrocephalus, Anteriorly placed... OMIM:239300
Piebaldism
Aganglionic megacolon ORPHA:2884
Fatal Familial Insomnia
Apnea OMIM:600072
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Respiratory insufficiency OMIM:614653
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Cerebellar atrophy, Abnormal lower motor neuron morphology OMIM:614298
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic atrophy, Dysphagia, Optic disc pallor, Spinocere... OMIM:164400
Down Syndrome
Aganglionic megacolon, Type II diabetes mellitus, Macroglossia, Anal atresia, Narrow palate, Hypo... ORPHA:870
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Lissencephaly, Simplified gyral pattern, Cyanotic episode ORPHA:284417
Amyloidosis, Primary Localized Cutaneous, 1
Abnormal cranial nerve morphology OMIM:105250
Geleophysic Dysplasia 3
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea OMIM:617809
Thymoma, Familial
Respiratory insufficiency OMIM:274230
48,Xxyy Syndrome
Apnea, Asthma ORPHA:10
Goldberg-Shprintzen Syndrome
Hypoplasia of the brainstem, Aganglionic megacolon OMIM:609460
Machado-Joseph Disease Type 3
Dysphagia, Peripheral axonal neuropathy, Cerebellar atrophy, Dilated fourth ventricle, Spinocereb... ORPHA:276244
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Peroxisome Biogenesis Disorder 2A (Zellweger)
Death in childhood, Apnea, Jaundice OMIM:214110
Spastic Paralysis, Infantile-Onset Ascending
Dysphagia, Abnormal lower motor neuron morphology OMIM:607225
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Apnea OMIM:608809
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Retinal dystrophy, Cataract OMIM:263100
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Death in infancy, Cutis marmorata, Apnea OMIM:602613
Machado-Joseph Disease
Dysphagia, Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration, Abno... OMIM:109150
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Cyanosis, Abnormal mucociliary clearance, Purp... ORPHA:90051
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Respiratory insufficiency OMIM:618042
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Esophageal atresia OMIM:250250
Niemann-Pick Disease, Type C2
Respiratory failure, Prolonged neonatal jaundice, Respiratory insufficiency OMIM:607625
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Primary Lateral Sclerosis
Dysphagia, Cervical spinal cord atrophy, Motor axonal neuropathy, Atrophy of the spinal cord, Abn... ORPHA:35689
Arnold-Chiari Malformation Type I
Dysphagia, Myelopathy, Cranial nerve compression, Syringomyelia, Abnormality of the eleventh cran... ORPHA:268882
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Ileus OMIM:300352
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:308552
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal midbrain morphology, Abnormal pons morphology... ORPHA:79139
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Dyspnea, Intermittent hyper... ORPHA:348
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Familial Visceral Myopathy
Aganglionic megacolon, Cleft palate, Hyperparathyroidism ORPHA:2604
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Volvulus, Intestinal malrotation, Anal atresia, Tracheo... ORPHA:210122
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... ORPHA:91495
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105550
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Amyotrophic lateral sclerosis, Facial palsy OMIM:167320
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Pulmonary arterial hypertension, Sleep apnea OMIM:616482
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Obstructive sleep apnea, Apnea, Breathing dysregulation, Central sleep apnea, Hypoventilation, As... ORPHA:438213
Ramos-Arroyo Syndrome