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Gene: Phox2b MGI:1100882

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Haddad Syndrome
Death in infancy, Central hypoventilation, Breathing dysregulation ORPHA:99803
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon, 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
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency ORPHA:2085
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Hypoventilation, Breathing dysregulation OMIM:618232
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Worster-Drought Syndrome
Abnormal cranial nerve morphology ORPHA:3465
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon, Cerebellar hypoplasia ORPHA:1497
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus, High palate, Cerebellar hypoplasia, Inferior cerebellar ver... OMIM:304100
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Smooth tongue, Abnormalit... ORPHA:353253
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Ullrich Congenital Muscular Dystrophy 2
Nocturnal hypoventilation OMIM:616470
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Perry Syndrome
Central hypoventilation ORPHA:178509
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Iatrogenic Botulism
Dyspnea, Orthostatic hypotension, Mydriasis ORPHA:254509
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Mydriasis ORPHA:178481
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Toxin-Mediated Infectious Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Mydriasis ORPHA:230800
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Combined Oxidative Phosphorylation Deficiency 57
Neonatal death, Death in infancy, Apnea, Central hypoventilation OMIM:620167
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Ravine Syndrome
Apnea ORPHA:99852
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... OMIM:611890
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... OMIM:211530
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon... OMIM:243180
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... OMIM:600501
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Cleft palate ORPHA:91412
Wound Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Mydriasis ORPHA:178475
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... ORPHA:2257
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Myasthenic Syndrome, Congenital, 24, Presynaptic
Apnea, Respiratory insufficiency OMIM:618198
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Ganglioneuroma
Central hypoventilation ORPHA:251992
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ... OMIM:620296
Joubert Syndrome 33
Apnea OMIM:617767
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy ORPHA:500545
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Haddad Syndrome
Death in infancy, Central hypoventilation, Breathing dysregulation ORPHA:99803
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... ORPHA:171680
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Restrictive ventilator... ORPHA:324604
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Pse... OMIM:606353
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Death in infancy OMIM:620275
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Peripheral axonal neuropathy, Short-segment aganglionic megacolon OMIM:619465
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Inhalational Botulism
Dyspnea, Mydriasis ORPHA:254504
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea OMIM:618235
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Restrictive ventilatory defect, Nocturnal hypoventilation OMIM:607155
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Neurotrophic Keratopathy
Diabetes mellitus, Abnormal fifth cranial nerve morphology ORPHA:137596
Congenital Myopathy 3 With Rigid Spine
Restrictive ventilatory defect, Reduced vital capacity, Nocturnal hypoventilation OMIM:602771
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Pallor of dorsal columns ... OMIM:602433
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterot... OMIM:207950
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Erythema, Apnea OMIM:610015
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Senso... ORPHA:52430
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Aganglionic megacolon ORPHA:895
Foodborne Botulism
Respiratory insufficiency due to muscle weakness, Cardiorespiratory arrest, Mydriasis ORPHA:228371
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Respiratory insufficiency OMIM:618228
Ullrich Congenital Muscular Dystrophy 1
Nocturnal hypoventilation, Respiratory insufficiency due to muscle weakness, Respiratory insuffic... OMIM:254090
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
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
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension OMIM:263570
Botulism
Respiratory insufficiency, Mydriasis ORPHA:1267
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
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
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Pure Autonomic Failure
Orthostatic hypotension, Abnormality of circulating catecholamine level, Abnormal autonomic nervo... ORPHA:441
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... OMIM:620265
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Serotonin Syndrome
Abnormality of the autonomic nervous system, Tachypnea, Tremor, Mydriasis ORPHA:43116
2Q24 Microdeletion Syndrome
Central apnea ORPHA:1617
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Hyperekplexia 4
Respiratory failure OMIM:618011
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea ORPHA:320385
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea OMIM:619048
Infant Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Keratoconjunctivitis sicca, Mydriasis ORPHA:178478
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... ORPHA:59315
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology OMIM:258470
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea OMIM:615031
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood OMIM:611523
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Neonatal death ORPHA:85284
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon, Ganglioneuroma ORPHA:661
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Circumvallate Placenta Syndrome
Respiratory insufficiency OMIM:215550
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Stevenson-Carey Syndrome
Central hypoventilation OMIM:611961
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Illum Syndrome
Apnea OMIM:208155
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Respiratory insufficiency OMIM:618226
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... ORPHA:79138
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Typical Nemaline Myopathy
Nocturnal hypoventilation, Respiratory insufficiency ORPHA:171436
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Retinal telangiectasia OMIM:620155
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Cap Myopathy
Central hypoventilation ORPHA:171881
Succinic Acidemia
Respiratory distress OMIM:600335
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Aganglionic megacolon, Hydrocephalus, Tachypn... ORPHA:2318
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Aganglionic megacolon, Hydrocephalus, Cleft p... ORPHA:220497
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Tremor, Choreoathetosis, Abnormal autonomic nervous system physiolog... ORPHA:2131
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation OMIM:606056
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Aganglionic megacolon, Hy... ORPHA:475
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea ORPHA:79330
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Joubert Syndrome 7
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:611560
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea OMIM:619797
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea OMIM:614883
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Pontocerebellar Hypoplasia, Type 16
Apnea OMIM:619527
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Spinocerebellar atrophy, Decreased circulating... OMIM:215470
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal brainstem morphology ORPHA:411493
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia OMIM:618493
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Apnea, Respiratory insufficiency OMIM:608093
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Retinal infarction, Tachypnea, Mydriasis OMIM:613834
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... ORPHA:95430
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Kcnq2-Related Epileptic Encephalopathy
Apnea, Facial erythema ORPHA:439218
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Miller Fisher Syndrome
Anisocoria, Facial palsy, Mydriasis ORPHA:98919
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology DECIPHER:59
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Apnea, Aganglionic megacolon, Hydrocephalus, Cleft p... ORPHA:220493
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon, Ganglioneuroma OMIM:613013
Waardenburg-Shah Syndrome
Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology ORPHA:897
Goldberg-Shprintzen Megacolon Syndrome
Cleft palate, Aganglionic megacolon, Ventriculomegaly ORPHA:66629
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea OMIM:256030
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea ORPHA:1129
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Optic atrophy, Respiratory failure, Mydriasis OMIM:259720
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Cervical spinal cord atrophy, Abnormal autonomic nervous s... ORPHA:363722
Developmental And Epileptic Encephalopathy 99
Central apnea OMIM:619606
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Ventriculomegaly, Malabsorption ORPHA:452
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Myotonia Fluctuans
Stridor, Apnea ORPHA:99734
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Cocaine Intoxication
Respiratory distress, Mydriasis, Tremor, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation ORPHA:90068
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration ORPHA:3095
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Abnormal pupil morphology ORPHA:101082
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Pontocerebellar Hypoplasia Type 2
Apnea ORPHA:2524
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Respiratory insufficiency, Devel... ORPHA:2119
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Respiratory insufficiency OMIM:160565
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Respiratory insufficiency ORPHA:99949
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Aganglionic megacolon, Cleft palate, Anal at... OMIM:614749
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Prader-Willi Syndrome
Hypoventilation, Cutaneous photosensitivity OMIM:176270
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Piebald Trait
Aganglionic megacolon OMIM:172800
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
48,Xxyy Syndrome
Asthma, Apnea ORPHA:10
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Ect... ORPHA:2059
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell ... ORPHA:653
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Fatal Familial Insomnia
Apnea OMIM:600072
Rett Syndrome
Apnea, Intermittent hyperventilation OMIM:312750
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Hypophosphatasia, Infantile
Death in infancy, Stillbirth, Apnea OMIM:241500
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Arachnoid Cyst
Cranial nerve compression, Facial palsy, Mydriasis ORPHA:2356
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Axonal loss, Peripheral demyelination, Lateral ventricle ... OMIM:221770
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Dysphagia OMIM:607225
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormality of the a... ORPHA:449563
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea OMIM:314580
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea OMIM:210200
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... ORPHA:370959
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Alg1-Cdg
Respiratory failure ORPHA:79327
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Mydriasis OMIM:619351
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea OMIM:612949
Waardenburg Syndrome Type 1
Cleft palate, Aganglionic megacolon, Spina bifida ORPHA:894
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
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Death in infancy, Respiratory insufficiency, Death in adolescence OMIM:618042
Gaucher Disease, Type Ii
Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia OMIM:230900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea ORPHA:79644
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Apnea OMIM:300055
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Breath-Holding Spells
Cyanosis OMIM:607578
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest ORPHA:293987
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon ORPHA:52503
Orofaciodigital Syndrome Xvi
Apnea OMIM:617563
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Pheochromocytoma, High palate, E... OMIM:162300
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Cleft palate, Anal stenosis, Aganglionic megacolon, Dandy-Walker malformation OMIM:614207
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... ORPHA:98755
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Apnea, Death in childhood OMIM:214110
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation, Jaundice OMIM:203700
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Joubert Syndrome 17
Hyperventilation OMIM:614615
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... ORPHA:98914
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration OMIM:614653
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cerebellar vermis hypoplasia, Cyanotic episode, Simplified gyral pattern, Lissencephaly ORPHA:284417
American Trypanosomiasis
Achalasia, Aganglionic megacolon ORPHA:3386
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Pituitary Apoplexy
Mydriasis ORPHA:95613
Joubert Syndrome 8
Prolonged neonatal jaundice, Hyperventilation OMIM:612291
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Abnormal upper mot... ORPHA:35689
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormal brainstem morphology ORPHA:79279
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Dysphagia, Abnormal upper motor neuron morphology ORPHA:275872
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis OMIM:619727
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hydrocephalus, Cleft palate, Anteriorly placed anus, Abnormal rectum morph... OMIM:239300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure ORPHA:731
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Neonatal death, Petechiae, Purpura OMIM:608013
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Orofaciodigital Syndrome V
Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Lobulated tongue, ... OMIM:174300
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan... ORPHA:276244
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Type II diabetes mellitus,... ORPHA:870
Piebaldism
Aganglionic megacolon ORPHA:2884
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Bruising susceptibility ORPHA:3226
Scorpion Envenomation
Miosis, Tremor, Tachypnea, Abnormal nasal mucus secretion, Mydriasis ORPHA:466677
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Optic atrophy, Motor axonal neuropathy OMIM:614298
Toriello-Carey Syndrome
Aganglionic megacolon, Cleft palate, Coarctation of aorta, Anteriorly placed anus, High palate, A... ORPHA:3338
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Chronic Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Prolonged neonatal jaundice ORPHA:529799
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ... ORPHA:90051
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo... ORPHA:3440
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic disc pallor, Dilated fourth ventricle, Optic atr... OMIM:164400
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Ab... ORPHA:79139
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea OMIM:618056
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Tenorio Syndrome
Recurrent pneumonia, Apnea OMIM:616260
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea OMIM:615157
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Severe X-Linked Intellectual Disability, Gustavson Type
Apneic episodes in infancy ORPHA:3078
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Machado-Joseph Disease
Cerebellar atrophy, Dilated fourth ventricle, Spinocerebellar tract degeneration, Abnormal autono... OMIM:109150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Cleft palate ORPHA:2604
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Ramos-Arroyo Syndrome
Xerostomia, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Smooth tongue ORPHA:1051
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Death in infancy, Apnea OMIM:609069
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Aganglionic megacolon, Ventriculomegaly OMIM:613603
Necrotizing Enterocolitis
Apnea ORPHA:391673
Cerebral Creatine Deficiency Syndrome 1
Ileus, Aganglionic megacolon OMIM:300352
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Simplified gyral pattern, Acrocyanosis, Cerebellar hypoplasia OMIM:614407
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula ORPHA:2919
Hermansky-Pudlak Syndrome 10
Apnea OMIM:617050
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Lymphatic Malformation 12
Neonatal death, Neonatal respiratory distress, Death in adolescence OMIM:620014
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Pitt-Hopkins-Like Syndrome 2
Hyperventilation OMIM:614325
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Goldberg-Shprintzen Syndrome
Hypoplasia of the brainstem, Aganglionic megacolon OMIM:609460
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Hyperphosphatasia-Intellectual Disability Syndrome
Anteriorly placed anus, High palate, Aganglionic megacolon, Bifid uvula ORPHA:247262
Cartilage-Hair Hypoplasia
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption OMIM:250250
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Optic atrophy, Macroglossia, Gastroesophageal reflux, Volvulus ORPHA:847
Adult-Onset Cervical Dystonia, Dyt23 Type
Hyperventilation ORPHA:420492
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:3309
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Cholera
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation ORPHA:173
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis ORPHA:896
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation OMIM:253270
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Cyanosis, Apnea OMIM:261740
Facial Spasm
Anisocoria OMIM:134300
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Spina bifida occulta, Anal atresia OMIM:607323
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Thymoma, Familial
Respiratory insufficiency OMIM:274230
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia OMIM:617839
Tricuspid Atresia
Cyanosis ORPHA:1209
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Benign Schwannoma
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... ORPHA:252164
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, High palate, Abnormal anterior horn cell morphology ORPHA:1145
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Respiratory insufficiency OMIM:617527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Nocturnal hypoventilation ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Nocturnal hypoventilation ORPHA:352665
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Plaa-Associated Neurodevelopmental Disorder
Apnea, Respiratory insufficiency ORPHA:521426
Von Hippel-Lindau Disease
Papilledema, Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma,... ORPHA:892
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea ORPHA:20
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Telangi... ORPHA:420741
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Premature sk... OMIM:601559
Pitt-Hopkins-Like Syndrome 1
Hyperventilation OMIM:610042
Buerger Disease
Acrocyanosis ORPHA:36258
Lethal Acantholytic Erosive Disorder
Respiratory failure, Fragile skin ORPHA:158687
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption ORPHA:935
Esophageal Atresia
Respiratory distress, Cyanosis, Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gast... ORPHA:1199
Joubert Syndrome With Hepatic Defect
Apnea, Abnormal pattern of respiration ORPHA:1454
Autosomal Recessive Spastic Paraplegia Type 77
Sudden episodic apnea ORPHA:466722
Hsd10 Disease, Infantile Type
Gastrointestinal dysmotility, Cyanosis, Optic atrophy, Dysphagia ORPHA:391428
Alexander Disease
Microcoria OMIM:203450
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Genitopatellar Syndrome
Apnea ORPHA:85201
Glass Syndrome
Apnea OMIM:612313
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Acrocyanosis, Petechiae ORPHA:51188
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia, Abnormal upper ... OMIM:205100
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Cough ORPHA:579
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea ORPHA:395
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Tracheoesophageal fistula, Intestinal atresia ORPHA:93941
Charcot-Marie-Tooth Disease Type 1E
Decreased nerve conduction velocity, Abnormal pupil morphology, Anisocoria, Cough, Tonic pupil, S... ORPHA:90658
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Dysph... OMIM:105400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease ORPHA:397715
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Axonal loss, Dysphagia OMIM:300857
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... ORPHA:206448
Waardenburg Syndrome, Type 4C
Hypogonadism, Aganglionic megacolon OMIM:613266
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Stillbirth, Anal... OMIM:229850
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, Hy... OMIM:209900
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu... ORPHA:183
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Ileus, Aganglionic megacolon, Microcolon ORPHA:163746
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Anal atresia ORPHA:2473
Intellectual Developmental Disorder, Autosomal Dominant 54
Apnea, Hyperventilation OMIM:617799
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Tick-Borne Encephalitis
Abnormal medulla oblongata morphology, Facial palsy, Abnormal brainstem MRI signal intensity, Abn... ORPHA:297
Malignant Atrophic Papulosis
Pleural effusion, Telangiectasia of the skin, Respiratory failure ORPHA:679
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction ORPHA:141127
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:231550
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon ORPHA:3339
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Xp21 Deletion Syndrome
Apneic episodes in infancy ORPHA:261476
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest OMIM:619879
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Cyanosis, Abnormal pattern of respiration ORPHA:31826
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608091
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Diethylstilbestrol Syndrome
Central apnea ORPHA:1916
Plague
Respiratory distress, Conjunctival hyperemia, Acute infectious pneumonia, Mydriasis ORPHA:707
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Dyspnea, Cardiores... ORPHA:3342
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Spina bifida, Aplasia/Hypoplasia of the uvula, Hydroc... ORPHA:84
Congenital Fibrinogen Deficiency
Volvulus, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Leprosy
Abnormality of the seventh cranial nerve, Enlarged peripheral nerve, Abnormal autonomic nervous s... ORPHA:548
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Familial Dysautonomia
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... ORPHA:1764
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Esophagitis, Hiatus hernia ORPHA:2896
Fragile X-Associated Tremor/Ataxia Syndrome
Abnormal brainstem morphology, Abnormal autonomic nervous system physiology, Dysphagia, Diffuse c... ORPHA:93256
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hyperventilation OMIM:618775
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape, Slow pup... ORPHA:45358
Joubert Syndrome 1
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:213300
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus, Velopharyngeal insufficiency, Cleft pa... OMIM:154400
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Aganglionic megacolon ORPHA:959
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Marshall-Smith Syndrome
Apnea, Stridor, Aspiration pneumonia, Death in childhood, Pulmonary arterial hypertension, Recurr... OMIM:602535
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Aganglionic megacolon, Intestin... ORPHA:567
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Aganglionic megacolon, Intestinal malrotation, Precocious puberty, Pyloric st... OMIM:270400
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Pyloric stenosis, Optic atrophy, Cleft palate, Gastroesophageal reflux, Ap... ORPHA:818
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Spinal dysraphism ORPHA:175
Down Syndrome
Aganglionic megacolon, Protruding tongue, Pulmonary artery stenosis, Duodenal stenosis, Macroglos... OMIM:190685
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... ORPHA:251937
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Encephalitis Lethargica
Hyperventilation ORPHA:83600
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... OMIM:187300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Dysphagia ORPHA:600
Shprintzen-Goldberg Syndrome
Apnea ORPHA:2462
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Tay-Sachs Disease
Aspiration OMIM:272800
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea ORPHA:17
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy ORPHA:800
Aicardi-Goutieres Syndrome 1
Cerebellar calcifications, Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocy... OMIM:225750
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cleft palate, Cough, Cerebellar malformation ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Bruising susceptibility, Apnea, Chronic rhinitis ORPHA:667
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Wolfram Syndrome
Central apnea, Respiratory insufficiency ORPHA:3463
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Blepharospa... ORPHA:233
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Central hypothyroidism, Chiari type I malformation, Macroglo... ORPHA:798
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Asthma, Leukocoria ORPHA:2714
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Hyperventilation ORPHA:522077
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Dravet Syndrome
Cyanotic episode ORPHA:33069
Friedreich Ataxia 2
Abnormality of the dorsal column of the spinal cord, Abnormal medulla oblongata morphology, Diabe... OMIM:601992
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology ORPHA:412066
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Osteopathia Striata With Cranial Sclerosis
Tracheomalacia, Apnea OMIM:300373
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea ORPHA:2299
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Ogden Syndrome
Apnea, Prematurely aged appearance, Facial wrinkling, Jaundice, Pulmonary arterial hypertension, ... OMIM:300855
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Bloom Syndrome
Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory failure, Rhinitis, Cutaneou... ORPHA:125
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cleft palate, Chiari malformation, Hydromyelia, Neonatal death, Olivoponto... OMIM:308205
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Optic disc pallor, Retinal detachment, Band keratopathy, Ch... OMIM:267750
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation ORPHA:163681
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... OMIM:114290
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Mosaic Variegated Aneuploidy Syndrome
Apnea ORPHA:1052
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, High palate ORPHA:3304
Bohring-Opitz Syndrome
Apnea ORPHA:97297
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress, Death in infancy OMIM:618922
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Slc39A8-Cdg
Sudden episodic apnea ORPHA:468699
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... ORPHA:85167
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Trichinellosis
Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, A... ORPHA:863
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Death in infancy OMIM:610768
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Orthostatic hypotension, Anisocoria OMIM:615510
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Aqueductal stenosis, Posteriorly placed anus, Myelomeningocele, H... OMIM:306955
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea ORPHA:98754
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Gastroesophageal reflux, Hiatus hernia OMIM:601162
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea ORPHA:98793
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea ORPHA:177901
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial palsy, Abnormal brain... ORPHA:68
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Arima Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... OMIM:243910
Intellectual Developmental Disorder, Autosomal Dominant 57
Hyperventilation OMIM:618050
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developm... OMIM:175780
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia, Cutaneous photosensitivity ORPHA:647
Fraser Syndrome 2
Respiratory failure OMIM:617666
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia ORPHA:488627
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Cyanosis, Cleft palate ORPHA:2326
Acute Liver Failure
Jaundice, Abnormal respiratory system physiology, Hypocapnia, Bruising susceptibility, Abnormal p... ORPHA:90062
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Mowat-Wilson Syndrome
Aganglionic megacolon, Pulmonary artery sling, Pyloric stenosis, Pulmonary artery stenosis, Submu... OMIM:235730
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Cerebellar hypoplasia ORPHA:2273
Pitt-Hopkins Syndrome
Intermittent hyperventilation OMIM:610954
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Generalized abnormality of skin ORPHA:805
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Asthma, Erythema, Faci... OMIM:619503
Dermatomyositis
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... ORPHA:221
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Persistent pupillary membrane OMIM:257850
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... ORPHA:649
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Abetalipoproteinemia
Respiratory failure ORPHA:14
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypoplasia, Pulmonary art... ORPHA:261537
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Revesz Syndrome
Exudative retinopathy, Megalocornea, Leukocoria OMIM:268130
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Optic disc pallor, Cerebellar vermis hypoplasia, Lateral ventricle dila... OMIM:619869
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Halperin-Birk Syndrome
Aspiration, Death in childhood OMIM:618651
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Jaundice, Aspiration pneumonia ORPHA:646
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis hypoplasia, Pulmonary art... ORPHA:261552
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis OMIM:617478
Sotos Syndrome
Cerebellar vermis hypoplasia, Aganglionic megacolon, Gastroesophageal reflux, Hypothyroidism, Ven... ORPHA:821
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal pons morphology, Syringomyelia, Myelitis ORPHA:1320
Mowat-Wilson Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, Pulmonary art... ORPHA:2152
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
Steinert Myotonic Dystrophy
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... ORPHA:273
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation OMIM:616749
Oculocerebrorenal Syndrome Of Lowe
Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Respiratory insuff... ORPHA:534
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure ORPHA:2636
Superficial Siderosis
Anisocoria, Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve ORPHA:247245
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Optic disc coloboma, Pyloric stenosi... OMIM:309800
Hyperoxaluria, Primary, Type I
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy OMIM:259900
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Gastr... ORPHA:48435
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Hiatus hernia, Rectal p... ORPHA:287
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Primary Hyperoxaluria
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor ORPHA:416
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria ORPHA:1556
Scalp-Ear-Nipple Syndrome
Anisocoria, Cataract, Iris coloboma, Developmental cataract OMIM:181270
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema ORPHA:500150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae OMIM:618223
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Iris coloboma, Rieger anomaly OMIM:194190
Pallister-Killian Syndrome
Stillbirth, Apneic episodes in infancy, Hyperventilation OMIM:601803
Coffin-Lowry Syndrome
Cutis marmorata, Rectal prolapse, Narrow palate, High palate, Acrocyanosis OMIM:303600
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Witteveen-Kolk Syndrome
Anisocoria, Cataract, Iris coloboma OMIM:613406
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology, Pneumothorax, Respiratory insufficiency ORPHA:286
Sponastrime Dysplasia
Microcoria, Recurrent pneumonia, Congenital aphakia, Cataract ORPHA:93357
Neuroblastoma
ORPHA:635

Histopathology

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

There is no histopathology data for Phox2b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Phox2b.

No publications found that use IMPC mice or data for Phox2b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Phox2btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Phox2btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phox2btm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Phox2btm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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