| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
| Bronchopulmonary Dysplasia |
|
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... |
ORPHA:70589 |
| Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
| Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonproductive coug... |
ORPHA:2302 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Neonatal deat... |
OMIM:265120 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
| Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, EEG with irregular generalized spike and wave complexes, Tremor,... |
OMIM:601068 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural ho... |
ORPHA:79126 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respirator... |
OMIM:263000 |
| Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Respiratory distress, Reduced forced vital capacity... |
ORPHA:91359 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Abnormal pattern of respiration, Irregular respiration |
OMIM:207720 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... |
ORPHA:60032 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
| Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
| Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Parenchymal consolidation, Abnormal pulmonary thoracic imaging finding, Asthma, Wheezing, Hypoxem... |
ORPHA:2902 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decre... |
OMIM:610913 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Pulmonary infiltrates, Parenchymal consolidation, Elevated bronchoalveolar lavage fluid neutrophi... |
OMIM:610978 |
| Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Pneumothorax, Aspiration pneumonia, Abnormal pulmonary thoracic ... |
ORPHA:70588 |
| Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
| Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Lung abscess, Decreased DLCO, Inspi... |
OMIM:610910 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
| Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... |
ORPHA:3348 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ... |
ORPHA:1303 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Decre... |
ORPHA:79127 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
| Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abnormal pulmonary thoracic imaging finding, Syringom... |
ORPHA:2357 |
| Cherubism |
|
Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Respiratory failure, Neonatal death, Abnormal anterior ho... |
OMIM:611890 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Elevated pulmonary artery pressure, Hemothorax, Pulmonary edema, Centrilobular ground-g... |
ORPHA:199241 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... |
ORPHA:747 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis, Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
| Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... |
ORPHA:2257 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness |
OMIM:615515 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Atelectasis |
ORPHA:896 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Respiratory distress, Atelectasis, Death in infancy |
OMIM:300219 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness |
OMIM:611067 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Intraalveolar phospholipid accumulation, Decreased DLCO, Reduced forced vital capacity, Restricti... |
OMIM:300770 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis |
ORPHA:254361 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
| Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... |
OMIM:600501 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
| Choanal Atresia |
|
Cyanosis, Respiratory distress, Chronic sinusitis, Tracheomalacia, Upper airway obstruction, Abno... |
ORPHA:137914 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:602099 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Choreoathetosis, Dystonia |
ORPHA:71277 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
| Congenital Tracheomalacia |
|
Cyanosis, Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... |
ORPHA:60025 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Opisthotonus |
OMIM:250800 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Resp... |
ORPHA:2590 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
| Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Pneumo... |
OMIM:244400 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Syringomyelia, Cervical myelopathy, Inspiratory stridor |
OMIM:207950 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... |
ORPHA:52368 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis |
OMIM:601612 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morpholog... |
ORPHA:217563 |
| Hereditary Methemoglobinemia |
|
Cyanosis, Limb dystonia, Athetosis |
ORPHA:621 |
| Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
| Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... |
OMIM:602433 |
| Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Respiratory insufficiency, Amyotrophic lateral sclerosis |
OMIM:617892 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... |
ORPHA:1215 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology |
OMIM:613724 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Cervical spinal c... |
ORPHA:35689 |
| Amyotrophic Lateral Sclerosis 1 |
|
Sleep apnea, Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:105400 |
| Amyotrophic Lateral Sclerosis 21 |
|
Aspiration, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper... |
OMIM:606070 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary infiltrates, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morpholog... |
OMIM:612387 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
| Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea |
ORPHA:464453 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Cough, Generalized abnormality of skin, Atelectasis |
ORPHA:2314 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis |
ORPHA:52430 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Goodpasture Syndrome |
|
Cyanosis, Pulmonary infiltrates, Bloody bronchoalveolar lavage fluid, Pulmonary hemorrhage, Paren... |
OMIM:233450 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Retinal degeneration, Abnormal auditory evoked potentials, Macu... |
OMIM:619260 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Pleural empyema,... |
ORPHA:2038 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Abnormal anterior horn cell morphology, Respiratory distress, Degenera... |
ORPHA:1145 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Pneumothorax, Emphysema, Restrictive ventilatory defect, Dyspnea, Chylotho... |
ORPHA:538 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Farber Disease |
|
Respiratory insufficiency, Nodular pattern on pulmonary HRCT, Respiratory distress, Recurrent upp... |
ORPHA:333 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Paroxysmal dyspnea, Respiratory failure, Stridor |
ORPHA:444013 |
| Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Recurrent lower respiratory tract infections, Death in infancy, Respiratory distress, A... |
OMIM:618426 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Pulmonary hypoplasia, Emphysema, Recurrent pneumonia, Progeroid facial appearan... |
OMIM:613177 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology |
ORPHA:275872 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:98914 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Aspiration, Intercos... |
ORPHA:258 |
| Lujo Hemorrhagic Fever |
|
Rhinitis, Purpura, Respiratory distress, Ecchymosis, Crackles, Nonproductive cough, Atelectasis |
ORPHA:319213 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness |
OMIM:612069 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Pulmonary fibrosis, Respiratory failure, Recurrent respiratory infecti... |
OMIM:618278 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Opisthotonus, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure, Respiratory failure ... |
ORPHA:555874 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy |
OMIM:616881 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Repeated pneumothoraces, Pulmonary hypoplasia, Bruising susceptibility... |
ORPHA:536467 |
| Arnold-Chiari Malformation Type Ii |
|
Cyanosis, Syringomyelia, Apnea, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:608030 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory tract infection, Exertional dyspnea, Respiratory distress,... |
ORPHA:365 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Acrocyanosis, Intention tremor |
OMIM:614407 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis, Elevated pulmonary artery pressure, Intercostal retractions, Recurrent pneumonia, Crack... |
ORPHA:1329 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Dystonia, Head titubation, Vestibular areflexia |
ORPHA:3240 |
| Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Atelectasis |
OMIM:269860 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis, Choreoathetosis, Dystonia |
ORPHA:391428 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Pulmonary arterial hypertension, Hypocapnia, Bronchiectasis, Abnormal pulmonary thoraci... |
ORPHA:980 |
| Tetrasomy 5P |
|
Cyanosis, Pulmonary arterial hypertension, Pulmonary hypoplasia, Respiratory distress, Recurrent ... |
ORPHA:3309 |
| Zygomycosis |
|
Pulmonary infiltrates, Parenchymal consolidation, Pneumothorax, Pleural effusion, Air crescent si... |
ORPHA:73263 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Abnormal respiratory system physiology, Dyspnea, Amyotrophic lateral sclero... |
ORPHA:803 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology |
OMIM:263570 |
| Whim Syndrome |
|
Respiratory tract infection, Bronchiectasis, Recurrent pneumonia, Recurrent upper respiratory tra... |
ORPHA:51636 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, T... |
ORPHA:206443 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Asthma, Acrocyanosi... |
ORPHA:183 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Anomalous pulmonary venous return, Hypoxemia, Tachypnea |
ORPHA:860 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Cough, Air bronchogram, Atelectasis |
OMIM:306400 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Abnormal respiratory system physio... |
ORPHA:99106 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Sepsis In Premature Infants |
|
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura, Abnormal respiratory system physiology, Dy... |
ORPHA:90051 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Congenital Tracheal Stenosis |
|
Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,... |
ORPHA:141127 |
| Relapsing Polychondritis |
|
Purpura, Abnormal pattern of respiration, Dyspnea, Cough, Erythema, Atelectasis |
ORPHA:728 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Hypoxemia, Dyspnea |
ORPHA:439 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Upper limb post... |
ORPHA:99027 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Dravet Syndrome |
|
Cyanotic episode, Action tremor |
ORPHA:33069 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Double Outlet Right Ventricle |
|
Cyanosis, Pulmonary artery atresia, Tachypnea |
ORPHA:3426 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Abnormal neuron morphology, Motor neuron atrophy, Spinocerebellar tract degeneration |
ORPHA:412066 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:205100 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Respiratory insufficiency, Sudden episodic apnea |
ORPHA:159 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Opisthotonus |
ORPHA:3304 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resis... |
ORPHA:99104 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased... |
ORPHA:99103 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hype... |
ORPHA:99050 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Pul... |
OMIM:187300 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Pulmonary arteriovenous malformatio... |
OMIM:610655 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hand tremor, Optic nerve h... |
ORPHA:101085 |
| Esophageal Atresia |
|
Cyanosis, Bronchitis, Aspiration, Pulmonary hypoplasia, Respiratory distress, Chronic pulmonary o... |
ORPHA:1199 |
| Japanese Encephalitis |
|
Respiratory paralysis, Pulmonary edema, Paucity of anterior horn motor neurons, Irregular respira... |
ORPHA:79139 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... |
ORPHA:206436 |
| Meckel Syndrome 14 |
|
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest |
OMIM:619879 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Opisthotonus, Choreoathetosis |
OMIM:619580 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Erythema, Urticaria |
ORPHA:343 |
| Ethylene Glycol Poisoning |
|
Cyanosis, Pulmonary edema, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
| 22Q11.2 Deletion Syndrome |
|
Spina bifida, Asthma, Abnormal lung lobation, Purpura, Chronic pulmonary obstruction, Atelectasis |
ORPHA:567 |
| Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice, Dystonia |
OMIM:225750 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Atrioventricular septal defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pulmonary edema, Respiratory distress, Apnea, Pleural effusion |
OMIM:261740 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... |
ORPHA:276244 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Respiratory insufficiency, Recurrent respiratory infections, Atelectasis, Death in infancy |
ORPHA:534 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cyanosis, Palate telangiectasia, Gastrointestinal telangiectasia, Pulmonary arterial hypertension... |
OMIM:600376 |
| Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Abnormality of peripheral nerve conduction, Macrotia, Optic atrophy, Abse... |
ORPHA:90321 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return |
OMIM:617478 |
| Cerebrotendinous Xanthomatosis |
|
Abnormality of somatosensory evoked potentials, Resting tremor, Optic atrophy, Abnormal auditory ... |
ORPHA:909 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology |
OMIM:601162 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Torticollis, Agan... |
OMIM:609136 |
| Dermatomyositis |
|
Respiratory insufficiency, Cutaneous photosensitivity, Abnormal pulmonary interstitial morphology... |
ORPHA:221 |
| Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, Optic atrophy |
ORPHA:79330 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Pulmonary artery hypoplasia |
ORPHA:2326 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cyanosis, Respiratory insufficiency, Death in infancy, Apnea, Respiratory failure |
OMIM:252010 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Acrocyanosis, Pleural effusion, Restrictive ventilatory defect, ... |
ORPHA:2905 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Pulmonary artery hypoplasia, Pulmonary artery atresia, Total anomalous pulmonary venous... |
OMIM:616749 |
| Unilateral Polymicrogyria |
|
Cyanosis, Pulmonary arteriovenous malformation, Epistaxis, Apnea |
ORPHA:268943 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
| Tarp Syndrome |
|
Cyanosis, Apnea, Pulmonary hypoplasia |
ORPHA:2886 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis, Cough, Pulmonary edema, Tachypnea |
ORPHA:137675 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary edema, Abnorma... |
ORPHA:3384 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
| Aortic Arch Interruption |
|
Cyanosis, Aortopulmonary window, Exertional dyspnea, Respiratory distress, Tachypnea |
ORPHA:2299 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Optic atrophy, Retinal atrophy, Abnormal auditory evoked potent... |
OMIM:216400 |
| Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Pulmonary arterial hypertension, Cardiac total anomalous pulmonary venous connection, E... |
ORPHA:99125 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Tremor, Dec... |
OMIM:133540 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Aspiration, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness |
ORPHA:600 |
| Digeorge Syndrome |
|
Asthma, Recurrent sinusitis, Chronic pulmonary obstruction, Recurrent pneumonia, Atelectasis |
OMIM:188400 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypoventilation, Asthma, Cardiorespiratory arrest, Recurrent upper respiratory tract in... |
ORPHA:293987 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
| Familial Dysautonomia |
|
Abnormal pleura morphology, Recurrent respiratory infections, Acrocyanosis |
ORPHA:1764 |
| Eisenmenger Syndrome |
|
Cyanosis, Pulmonary arterial hypertension, Aortopulmonary window, Exertional dyspnea, Hypoxemia, ... |
ORPHA:97214 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Bilateral trilobed lung, Respiratory distress, Total anomalous pulmonary venous return |
OMIM:306955 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
| Pitt-Hopkins Syndrome |
|
Sleep apnea, Abnormal pattern of respiration, Acrocyanosis, Hyperventilation |
ORPHA:2896 |
| Myoclonus, Intractable, Neonatal |
|
Apnea |
OMIM:617235 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology |
OMIM:614298 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea, Prominent superficial blood vessel... |
ORPHA:740 |
| Postinfectious Vasculitis |
|
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin, Recurrent streptococcus ... |
ORPHA:48435 |
| Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
| Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Tremor, Prolonged neonatal jaundice, Dystonia |
ORPHA:51 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Pulmonary artery atresia |
OMIM:212093 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Classical Ehlers-Danlos Syndrome |
|
Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... |
ORPHA:287 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Respiratory distress, Pulmonary arterial hypertension |
ORPHA:51608 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:216694 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Acrocyanosis |
ORPHA:285 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Rod-cone dystrophy, Hearing impairment |
ORPHA:100991 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
|
OMIM:604187 |
