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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation OMIM:209880
Haddad Syndrome
Central sleep apnea, Breathing dysregulation, Central hypoventilation, Death in infancy ORPHA:99803
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system, Ganglioneuroma ORPHA:661
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon, Ganglioneuroma OMIM:613013
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Neuroblastoma
ORPHA:635

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

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Apnea, Central Sleep
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration OMIM:207720
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Respiratory insufficiency, Restrictive ventilatory defect, Airway obstruction, Reduced forced vit... OMIM:617232
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Parana Hard-Skin Syndrome
Respiratory insufficiency OMIM:260530
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Mitochondrial Complex I Deficiency, Nuclear Type 9
Breathing dysregulation, Neonatal death, Hypoventilation OMIM:618232
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... DECIPHER:29
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Respiratory insufficiency, Apnea, Central hypoventilation OMIM:300673
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Death in adolescence, Respiratory insufficiency due to muscle weakness OMIM:300717
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea OMIM:263000
Worster-Drought Syndrome
Abnormal cranial nerve morphology ORPHA:3465
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation OMIM:618233
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Lethal Congenital Contracture Syndrome 4
Respiratory insufficiency OMIM:614915
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death OMIM:615228
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Maple Syrup Urine Disease
Respiratory insufficiency ORPHA:511
Postpoliomyelitis Syndrome
Respiratory insufficiency, Hypoventilation ORPHA:2942
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Myasthenic Syndrome, Congenital, 8
Respiratory insufficiency OMIM:615120
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Inferior cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia OMIM:304100
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon, Cerebellar hypoplasia ORPHA:1497
Larynx Atresia
Respiratory insufficiency ORPHA:1202
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Congenital Myopathy 14
Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Death in infancy, Apnea, Dyspnea, Respiratory failure,... OMIM:265120
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis, Abnormality of enteric ganglion morphology OMIM:142623
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Apnea OMIM:617239
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology, Strawber... ORPHA:353253
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Perry Syndrome
Respiratory insufficiency, Respiratory arrest, Hypoventilation, Central hypoventilation OMIM:168605
Iatrogenic Botulism
Orthostatic hypotension, Dyspnea, Mydriasis ORPHA:254509
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation, Stridor OMIM:617143
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Perry Syndrome
Central hypoventilation ORPHA:178509
Muscular Dystrophy, Duchenne Type
Hypoventilation, Restrictive ventilatory defect, Respiratory failure, Obstructive sleep apnea, Re... OMIM:310200
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma OMIM:616428
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Intestinal Botulism
Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness ORPHA:178481
Toxin-Mediated Infectious Botulism
Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness ORPHA:230800
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Nocturnal hypoventilation, Hypoxemia, Apnea, Hypercapnia, Central hypoventilation OMIM:209880
Haddad Syndrome
Central sleep apnea, Breathing dysregulation, Central hypoventilation, Death in infancy ORPHA:99803
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor OMIM:211530
Ravine Syndrome
Apnea ORPHA:99852
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Respiratory failure OMIM:610127
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Hypoxemia, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cough, Pneumo... OMIM:610910
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Paucity of anterior horn motor neurons, Facial diplegia, Peripheral axonal neuropath... OMIM:611890
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Abcd Syndrome
Aganglionic megacolon, Neonatal death, Total intestinal aganglionosis, Abnormal auditory evoked p... OMIM:600501
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Intesti... OMIM:243180
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress... OMIM:618781
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Wound Botulism
Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness ORPHA:178475
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Marcus-Gunn Syndrome
Cleft palate, Abnormal fifth cranial nerve morphology ORPHA:91412
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... OMIM:610921
Asbestos Intoxication
Cyanosis, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Reduced forced vital capacity... ORPHA:2302
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Congenital Pulmonary Airway Malformation
Respiratory insufficiency ORPHA:2444
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... ORPHA:723
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Ganglioneuroma
Central hypoventilation ORPHA:251992
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Decreased compound muscle action potential amplitude, Abnormal upper moto... OMIM:606353
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia ORPHA:314655
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Infant Acute Respiratory Distress Syndrome
Cyanosis, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Hereditary Neuropathy With Liability To Pressure Palsies
Respiratory insufficiency ORPHA:640
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Hypoplasia of the brainstem, Ventriculomegaly, Aganglionic megacolon, O... ORPHA:171680
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure OMIM:614399
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Restrictive ventilatory defect, Cough, Abnormal pattern of respiration ORPHA:724
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Restrictive ventilatory def... ORPHA:70
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Nocturnal hypoventilation, Intermittent episodes of respiratory i... ORPHA:324604
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Restrictive ventilatory defect, Reduced forced vital capacity, Nocturnal hypoventilation OMIM:607155
Epilepsy, Early-Onset, Vitamin B6-Dependent
Respiratory insufficiency, Apnea OMIM:617290
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory insufficiency OMIM:618252
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia... OMIM:610913
Inhalational Botulism
Dyspnea, Mydriasis ORPHA:254504
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Peripheral axonal neuropathy, Short-segment aganglionic megacolon OMIM:619465
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Congenital Myopathy 3 With Rigid Spine
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation OMIM:602771
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Death in infancy ORPHA:139406
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Chiari Malformation Type Ii
Cyanosis, Gray matter heterotopia, Myelomeningocele, Chiari malformation, Spina bifida, Hydroceph... OMIM:207950
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency OMIM:616314
Neurotrophic Keratopathy
Diabetes mellitus, Abnormal fifth cranial nerve morphology ORPHA:137596
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Cherubism
Macular scar, Optic neuropathy, Marcus Gunn pupil OMIM:118400
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Ullrich Congenital Muscular Dystrophy 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory insufficiency due to muscle wea... OMIM:254090
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Foodborne Botulism
Cardiorespiratory arrest, Mydriasis, Respiratory insufficiency due to muscle weakness ORPHA:228371
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Motor axonal neuropathy, Abnormal motor neuron morphology, Sensory axo... ORPHA:52430
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Waardenburg Syndrome Type 2
Aganglionic megacolon, Abnormality of the pulmonary artery ORPHA:895
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Botulism
Respiratory insufficiency, Mydriasis ORPHA:1267
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Peripheral axonal neuropathy OMIM:263570
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Apnea, Restrictive ventilatory ... ORPHA:2257
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure ORPHA:168486
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Pure Autonomic Failure
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of circulating... ORPHA:441
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:608647
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal polyposis... ORPHA:388
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Hyperekplexia 4
Respiratory failure OMIM:618011
Acute Lung Injury
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Serotonin Syndrome
Mydriasis, Tremor, Abnormality of the autonomic nervous system, Tachypnea ORPHA:43116
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Abnormal dentate nucleus morphology, Ventriculomegaly, Sept... ORPHA:59315
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Infant Botulism
Keratoconjunctivitis sicca, Dyspnea, Mydriasis, Respiratory insufficiency due to muscle weakness ORPHA:178478
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Choanal Atresia
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... ORPHA:137914
Joubert Syndrome 33
Apnea OMIM:617767
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology OMIM:258470
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Myasthenic Syndrome, Congenital, 24, Presynaptic
Respiratory insufficiency, Apnea OMIM:618198
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Cleft palate, Neonatal death ORPHA:85284
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system, Ganglioneuroma ORPHA:661
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Death in infancy, Respiratory failure, Neonatal death, Death in childh... OMIM:245400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Recurrent pneumonia, Sleep apnea, Hypoventilation OMIM:618493
Cap Myopathy
Central hypoventilation ORPHA:171881
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Hypoxemia, Pleural effusion, Crackles, Dyspnea, Respiratory failure, De... ORPHA:79126
Bickerstaff Brainstem Encephalitis
Respiratory failure, Mydriasis, Decreased motor nerve conduction velocity, Abnormality of the aut... ORPHA:79138
Typical Nemaline Myopathy
Respiratory insufficiency, Nocturnal hypoventilation ORPHA:171436
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea OMIM:619482
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak... ORPHA:2590
Joubert Syndrome With Oculorenal Defect
Encephalocele, Abnormality of neuronal migration, Molar tooth sign on MRI, Aganglionic megacolon,... ORPHA:2318
Acquired Methemoglobinemia
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress ORPHA:464453
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation ORPHA:70474
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Abnormal autonomic nervous system physiology, Aganglionic megacolon OMIM:613870
Joubert Syndrome With Renal Defect
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Cerebellar vermis h... ORPHA:220497
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Hypoxemia, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO ORPHA:747
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Aspiration, Intercos... ORPHA:258
Secondary Short Bowel Syndrome
Central hypothyroidism, Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorpti... ORPHA:95427
Mogs-Cdg
Apnea, Hypoventilation, Respiratory distress ORPHA:79330
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia ORPHA:70578
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... OMIM:615294
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Neonatal death, Apnea, Erythema OMIM:610015
Joubert Syndrome
Encephalocele, Abnormality of neuronal migration, Episodic tachypnea, Aganglionic megacolon, Hydr... ORPHA:475
Bethlem Myopathy
Reduced maximal expiratory pressure, Hypoventilation ORPHA:610
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... OMIM:619751
Alternating Hemiplegia Of Childhood
Mydriasis, Aspiration, Abnormal autonomic nervous system physiology, Choreoathetosis, Respiratory... ORPHA:2131
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death OMIM:601612
Congenital Lethal Erythroderma
Respiratory insufficiency, Death in infancy, Urticaria ORPHA:1954
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Avian Influenza
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... ORPHA:454836
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of respiration, Stridor OMIM:608800
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis ORPHA:444013
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Cerebellar atrophy, Spinocerebellar atrophy, Hy... OMIM:215470
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Retinal infarction, Mydriasis, Tachypnea OMIM:613834
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Neonatal death OMIM:245650
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hyperekplexia 3
Apnea, Respiratory arrest OMIM:614618
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:617184
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea OMIM:614299
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Joubert Syndrome With Ocular Defect
Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Hydrocephalus, Cerebellar vermis h... ORPHA:220493
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... OMIM:615481
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Peripheral demyelination DECIPHER:59
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon, Ganglioneuroma OMIM:613013
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Ventriculomegaly, Cleft palate ORPHA:66629
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Waardenburg-Shah Syndrome
Aganglionic megacolon, Abnormal intestine morphology, Intestinal obstruction ORPHA:897
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation OMIM:229700
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,... OMIM:608644
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Productive cough, R... OMIM:615451
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... OMIM:309300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Optic atrophy, Respiratory failure, Optic disc pallor, Facial palsy OMIM:259720
Leigh Syndrome
Respiratory insufficiency, Abnormal pattern of respiration, Respiratory failure OMIM:256000
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Aganglionic megacolon, Ventriculomegaly ORPHA:452
Attrv122I Amyloidosis
Abnormal autonomic nervous system physiology, Abnormality of enteric nervous system morphology ORPHA:85451
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Arnold-Chiari Malformation Type Ii
Meningocele, Cyanosis, Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Brain stem compressi... ORPHA:1136
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Alexander Disease Type Ii
Abnormal autonomic nervous system physiology, Cervical spinal cord atrophy, Abnormal medulla oblo... ORPHA:363722
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough ORPHA:1164
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... ORPHA:60032
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Dyspnea OMIM:606842
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Cocaine Intoxication
Pneumothorax, Mydriasis, Respiratory distress, Tremor, Hyperventilation, Cough, Wheezing, Tachypnea ORPHA:90068
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... OMIM:606070
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency ORPHA:2111
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... OMIM:605711
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Ventilator dependence with inability to wean, Inspiratory stridor, Tachypnea OMIM:604320
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Mitochondrial Complex I Deficiency, Nuclear Type 5
Respiratory insufficiency, Apnea OMIM:618226
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Illum Syndrome
Apnea OMIM:208155
Multiple Endocrine Neoplasia, Type Iia
Parathyroid adenoma, Increased circulating cortisol level, Aganglionic megacolon, Pheochromocytom... OMIM:171400
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Pseudo-Torch Syndrome 3
Respiratory insufficiency, Apnea, Death in infancy OMIM:618886
Nemaline Myopathy 2
Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Pulmonary Hemosiderosis
Respiratory insufficiency OMIM:178550
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Dyspnea, Exertional dyspnea OMIM:614370
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2759
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Decreased nerve conduction velocity ORPHA:101082
Congenital Tracheomalacia
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Cyanosis, Pneu... ORPHA:95430
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory failure, Prolonged neonatal ja... OMIM:607625
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Hec Syndrome
Abnormal pupil morphology, Respiratory insufficiency, Developmental cataract, Abnormal retinal va... ORPHA:2119
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness ORPHA:352447
Leigh Syndrome With Leukodystrophy
Apnea ORPHA:255241
Prader-Willi Syndrome
Cutaneous photosensitivity, Sleep apnea, Hypoventilation OMIM:176270
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Respiratory insufficiency OMIM:160565
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Death in childhood, Death in adolescence, Death in infancy OMIM:618042
Idiopathic Pulmonary Hemosiderosis
Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Respiratory failure ORPHA:99931
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... ORPHA:54
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... OMIM:310600
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Charcot-Marie-Tooth Disease Type 4C
Respiratory insufficiency, Hypoventilation ORPHA:99949
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Ventriculomegaly, Aganglionic megacolon, Anal atresia, Peripheral pulmonary artery stenosis, Clef... OMIM:614749
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Obstructive sleep apnea, Stridor, Intercostal muscle weakness OMIM:606071
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Snakebite Envenomation
Respiratory paralysis, Ecchymosis, Epistaxis, Erythema, Respiratory failure, Angioedema ORPHA:449285
Chronic Beryllium Disease
Respiratory insufficiency, Abnormal respiratory system physiology, Dyspnea, Cough, Lymphocytic in... ORPHA:133
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Hypoxemia, Pleural ... ORPHA:199241
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Congenital Disorder Of Glycosylation, Type Ij
Respiratory insufficiency, Jaundice, Apnea OMIM:608093
Piebald Trait
Aganglionic megacolon OMIM:172800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Respiratory distress, Apnea, Hypopnea, Neonatal respiratory distress,... OMIM:618426
Mitochondrial Complex I Deficiency, Nuclear Type 2
Respiratory insufficiency, Apnea, Hypercapnia, Apneic episodes in infancy OMIM:618222
Fryns Syndrome
Gastroesophageal reflux, Abnormal aortic morphology, High palate, Ventriculomegaly, Ectopic anus,... ORPHA:2059
Scedosporiosis
Pleural empyema, Abnormal respiratory system physiology, Sinusitis, Cough, Respiratory failure, B... ORPHA:449280
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... OMIM:615512
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Multiple Endocrine Neoplasia Type 2
Ganglioneuromatosis, Parathyroid adenoma, Aganglionic megacolon, Parathyroid hyperplasia, Neoplas... ORPHA:653
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Telangiectasia, Hemothorax, Pleural empyema, Hypoxemia... ORPHA:2038
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Kcnq2-Related Epileptic Encephalopathy
Apnea, Facial erythema ORPHA:439218
Arachnoid Cyst
Cranial nerve compression, Mydriasis, Facial palsy ORPHA:2356
Tracheal Agenesis
Respiratory insufficiency ORPHA:3346
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation, Tac... ORPHA:555874
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Carbamoyl-Phosphate Synthetase 1 Deficiency
Respiratory insufficiency ORPHA:147
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Central hypoventilation, Obstructive... ORPHA:293987
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Peripheral demyelination, Lateral ventricle dilatation, A... OMIM:221770
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Abnormal fifth cranial nerve morphology, Thyroiditis, Colo... ORPHA:449563
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:98914
Amyotrophic Lateral Sclerosis
Respiratory failure, Abnormal respiratory system physiology, Dyspnea ORPHA:803
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood, Tachypnea OMIM:615838
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Alg1-Cdg
Respiratory failure ORPHA:79327
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Restrictive ventilatory defect OMIM:606612
Congenital Muscular Dystrophy With Cerebellar Involvement
Fusion of the cerebellar hemispheres, Dilated fourth ventricle, Hypoplasia of the brainstem, Abno... ORPHA:370959
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Aspiration pneumonia, Bronchiectasis OMIM:618253
Waardenburg Syndrome Type 1
Spina bifida, Aganglionic megacolon, Cleft palate ORPHA:894
Hyperglycinemia, Lactic Acidosis, And Seizures
Respiratory insufficiency, Apnea OMIM:614462
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Mydriasis OMIM:619351
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Central apnea OMIM:618291
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Jaundice, Hypoventilation OMIM:203700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, High palate, Aganglionic megacolon, Parathyroid hyperplasia, Nodular goiter,... OMIM:162300
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Breath-Holding Spells
Cyanosis OMIM:607578
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia OMIM:616437
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Loss of Purkinje cells in the cerebellar vermis, Abnormality ... ORPHA:98755
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn... ORPHA:209959
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Respiratory distress, Central apnea, Re... OMIM:616482
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Joubert Syndrome 17
Hyperventilation OMIM:614615
American Trypanosomiasis
Aganglionic megacolon, Achalasia ORPHA:3386
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Hypergonadotropic hypogonadism OMIM:613724
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus ORPHA:52503
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Myotonia Fluctuans
Apnea, Stridor ORPHA:99734
Pituitary Apoplexy
Mydriasis ORPHA:95613
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insufficienc... OMIM:616037
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Cyanosis, Pneumothorax, Exertional dyspnea, Bronchiectasis, Hypoxemia,... ORPHA:60025
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Isolated Right Ventricular Hypoplasia
Dyspnea, Cyanosis, Hypoxemia ORPHA:439
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Death in infancy, Jaundice, Apnea, Hypopnea, Respiratory arrest, Neonatal death OMIM:617248
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Jaundice, Recurrent pneumonia, Respiratory failure, Spontaneous pneumothorax ORPHA:731
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Abnormal autonomic nervous system physiology, Aganglionic megacolon, Absent brainstem auditory re... OMIM:609136
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Optic atrophy ORPHA:79279
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Simplified gyral pattern, Cyanotic episode, Lissencephaly, Cerebellar vermis hypoplasia ORPHA:284417
Craniotubular Dysplasia, Ikegawa Type
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy OMIM:619727
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Primary Lateral Sclerosis
Motor axonal neuropathy, Cervical spinal cord atrophy, Abnormal lower motor neuron morphology, At... ORPHA:35689
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Dysphagia ORPHA:275872
Joubert Syndrome 8
Prolonged neonatal jaundice, Hyperventilation OMIM:612291
Aniridia 1
Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Corneal n... OMIM:106210
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Hypoxemia, Tachypnea ORPHA:542323
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Exertional dyspnea, Asthma, Crackles, Orthopnea, Dyspnea, Respir... ORPHA:563
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Scorpion Envenomation
Mydriasis, Tremor, Abnormal nasal mucus secretion, Miosis, Tachypnea ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Respiratory distress, Respiratory failure, Death in childhood, Respiratory in... OMIM:220110
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hydrocephalus, Anteriorly placed anus, Cleft palate, Abnormal rectum morph... OMIM:239300
Orofaciodigital Syndrome V
Lobulated tongue, Bifid tongue, High palate, Aganglionic megacolon, Ankyloglossia, Bifid uvula, C... OMIM:174300
Piebaldism
Aganglionic megacolon ORPHA:2884
Down Syndrome
Hypothyroidism, Narrow palate, Aganglionic megacolon, Type II diabetes mellitus, Macroglossia, An... ORPHA:870
Joubert Syndrome 3
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea OMIM:608629
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Exertional dyspnea, Productive cough, Recurrent pneumonia, Upper airwa... ORPHA:3348
Machado-Joseph Disease Type 3
Dilated fourth ventricle, Degeneration of anterior horn cells, Substantia nigra gliosis, Abnormal... ORPHA:276244
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract OMIM:619649
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Atypical Rett Syndrome
Abnormal pattern of respiration, Sudden episodic apnea, Episodic tachypnea ORPHA:3095
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Motor axonal neuropathy, Optic atrophy OMIM:614298
Spinocerebellar Ataxia 1
Dilated fourth ventricle, Spinocerebellar tract degeneration, Optic atrophy, Decreased motor nerv... OMIM:164400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension OMIM:613845
Waardenburg Syndrome
Aganglionic megacolon, Intestinal obstruction, Aplasia/Hypoplasia of the colon, Abnormality of th... ORPHA:3440
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... ORPHA:1329
Primary Ciliary Dyskinesia
Respiratory failure, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Airwa... ORPHA:244
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood, Bradypnea OMIM:617186
Rett Syndrome
Intermittent hyperventilation, Apnea OMIM:312750
Hypophosphatasia, Infantile
Apnea, Stillbirth, Death in infancy OMIM:241500
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory failure, Respiratory failure requiri... ORPHA:308552
Sepsis In Premature Infants
Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Dy... ORPHA:90051
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2707
Thymoma, Familial
Respiratory insufficiency OMIM:274230
Fatal Familial Insomnia
Apnea OMIM:600072
Paragangliomas 1
Glomus jugular tumor, Elevated circulating catecholamine level, Glomus tympanicum paraganglioma, ... OMIM:168000
Japanese Encephalitis
Abnormal substantia nigra morphology, Decreased motor nerve conduction velocity, Paucity of anter... ORPHA:79139
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
48,Xxyy Syndrome
Asthma, Apnea ORPHA:10
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure ORPHA:3015
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Dysphagia OMIM:607225
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Machado-Joseph Disease
Dilated fourth ventricle, Abnormal autonomic nervous system physiology, Dysphagia, Cerebellar atr... OMIM:109150
Congenital Alveolar Capillary Dysplasia
Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, Tracheoesophageal fistula, Inte... ORPHA:210122
Familial Visceral Myopathy
Aganglionic megacolon, Hyperparathyroidism, Cleft palate ORPHA:2604
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Aspiration pneumonia, Central sleep apnea, Breathing dysregulation, Apnea, Obstr... ORPHA:438213
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Macular hypoplasia, L... ORPHA:91495
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Ramos-Arroyo Syndrome
Xerostomia, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Smooth tongue ORPHA:1051
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Death in infancy, Apnea, Cough, Stridor OMIM:230900
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Orofaciodigital Syndrome Type 5
Bifid tongue, Cleft soft palate, Aganglionic megacolon, Bifid uvula, High, narrow palate ORPHA:2919
Propionic Acidemia
Apnea, Tachypnea OMIM:606054
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus, Ventriculomegaly OMIM:613603
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Ileus OMIM:300352
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology ORPHA:98905
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Cutis marmorata, Death in infancy OMIM:602613
Lymphatic Malformation 12
Neonatal respiratory distress, Neonatal death, Death in adolescence OMIM:620014
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Simplified gyral pattern, Acrocyanosis, Cerebellar hypoplasia OMIM:614407
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Tachypnea ORPHA:860
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Jaundice, Death in childhood OMIM:214110
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Hypoplasia of the brainstem OMIM:609460
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Bifid uvula, High palate, Anteriorly placed anus ORPHA:247262
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Gastroesophageal reflux, Optic atrophy, Volvulus, Aganglionic megacolon, Macroglossia ORPHA:847
Geleophysic Dysplasia 3
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea OMIM:617809
Paragangliomas 3
Glomus jugular tumor, Elevated circulating catecholamine level, Chemodectoma, Paraganglioma, Extr... OMIM:605373
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Anal stenosis, Esophageal atresia OMIM:250250
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Respiratory failure OMIM:609015
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Aspiration, Apnea, Erythema, Stridor, Neonatal respiratory distress OMIM:614653
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:3309
Atrial Septal Defect, Ostium Primum Type