Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... |
OMIM:605809 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... |
OMIM:254210 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, ... |
OMIM:614399 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... |
ORPHA:90117 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness,... |
ORPHA:254875 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory distress, Frontalis m... |
OMIM:300580 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Bulbar palsy, Facial pa... |
OMIM:211530 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Generalized muscle weakness, Respiratory insufficiency |
ORPHA:238329 |
Hereditary Myopathy With Early Respiratory Failure |
|
Orthopnea, Reduced vital capacity, Distal muscle weakness, Neck flexor weakness, Proximal muscle ... |
ORPHA:178464 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Facial palsy, Gowers sign, Dyspnea, Decreased compound muscle action potential ampl... |
OMIM:603511 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Gaucher Disease Type 2 |
|
Respiratory distress, Ophthalmoplegia, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Distal muscle weakness, Diaphragmatic paralysis, Paradoxical respiration, W... |
OMIM:620011 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Fatigable weakness, Abnormal peripheral nervous system synaptic transmission, Facial palsy, Favor... |
ORPHA:353327 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Progressive proximal muscle weakness, Shoulder girdle muscle weakness, Weak... |
ORPHA:2596 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Adult Intestinal Botulism |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysis, Muscle weakness |
ORPHA:178487 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Proximal muscle weakness, Limb-girdle muscle weakness, Gowers sign, Dyspnea... |
ORPHA:86812 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Poor head control, Tachypnea, Optic atrophy, Respiratory ... |
OMIM:614299 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Muscle weakness, Ventil... |
ORPHA:254864 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Neck flexor weakness, Facial palsy, Ankle weakness, Ophthalmop... |
ORPHA:98913 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Distal muscle weakness, Abnormal anterior horn cell morphology, Proximal mu... |
ORPHA:1145 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Van Den Bosch Syndrome |
|
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... |
ORPHA:3417 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy |
OMIM:615042 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Poor head control, Distal muscle weakness, Neonatal respir... |
ORPHA:98915 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Optic atrophy, Death in childhood |
OMIM:615597 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy |
ORPHA:26792 |
Myasthenic Syndrome, Congenital, 5 |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:603034 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Decreased miniature endplate potentials |
OMIM:608930 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Fatigable we... |
ORPHA:596 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Respiratory distress, Muscle weakness |
OMIM:613561 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Upper limb muscle weakness, Respiratory insufficiency due to muscle weakness, Lower limb muscle w... |
ORPHA:1143 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Proximal muscle weakness, Progressive muscle weakness, Respiratory failure,... |
OMIM:620166 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Fatigable weakness of bulbar muscles, Dyspnea, Motor neuron atroph... |
ORPHA:803 |
Congenital Myasthenic Syndrome |
|
Bulbar palsy, Poor head control, Sudden episodic apnea, Proximal muscle weakness, Intermittent ep... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Bulbar palsy, Poor head control, Sudden episodic apnea, Proximal muscle weakness, Intermittent ep... |
ORPHA:98914 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Muscle weakness |
OMIM:616733 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Distal muscle weakness, Facial palsy, Hypercapnia, Proximal muscle weakness... |
OMIM:164310 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
External ophthalmoplegia, Respiratory distress |
OMIM:612075 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Optic atrophy, Apnea |
ORPHA:79097 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Stt3B-Cdg |
|
Respiratory distress, Optic atrophy |
ORPHA:370924 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Muscle weakness |
OMIM:160900 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Optic disc pallor, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Ophthalmoplegia, Optic atrophy, Muscle weakness |
ORPHA:254913 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy |
ORPHA:289916 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Generalized muscle weakness, Respiratory failure, Interstitial pne... |
ORPHA:330021 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Ophthalmop... |
OMIM:220110 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Gowers sign, Neonatal respiratory distress, Generalized muscle weakness, Respiratory insufficiency |
OMIM:616326 |
Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Poor head control, Decrease... |
ORPHA:206436 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Proximal muscle weaknes... |
ORPHA:308552 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Muscle flaccidity |
ORPHA:2707 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Muscle weakness, Proximal muscle weakness |
OMIM:212140 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy |
ORPHA:79312 |
Tetanus |
|
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... |
ORPHA:3299 |
Iatrogenic Botulism |
|
Dyspnea, Orthostatic hypotension, Diaphragmatic paralysis, Muscle weakness |
ORPHA:254509 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Poor head control, Stridor |
OMIM:615595 |
Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Fati... |
ORPHA:1320 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Optic atrophy |
OMIM:608799 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Poor head control, Optic atrophy |
ORPHA:329178 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Optic atrophy |
ORPHA:391428 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Generalized muscle weakness, Respiratory failure, Chyloth... |
OMIM:620278 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Degeneration of anterior horn cells |
OMIM:271225 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Poor head control, Decreased nerve conduction velocity, Aspiration, Decreas... |
OMIM:618733 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Poor head control |
OMIM:619272 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Gowers sign, P... |
ORPHA:365 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Abnormal cranial nerve morphology |
ORPHA:990 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Optic atrophy |
OMIM:261680 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Abnormal neuron branching, Respiratory insufficiency |
ORPHA:367 |
Moebius Syndrome |
|
Respiratory distress, Facial diplegia |
OMIM:157900 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death, Muscle weakness |
OMIM:231680 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Ophthalmoplegia, Pleural effusion, Cough, Limb muscle w... |
ORPHA:1546 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Japanese Encephalitis |
|
Respiratory distress, Decreased motor nerve conduction velocity, Facial palsy, Paucity of anterio... |
ORPHA:79139 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Optic atrophy |
OMIM:619383 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:2257 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Fatigable weakness of skeletal muscles |
OMIM:617239 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis |
ORPHA:860 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent pneumonia, Optic atrophy, Death in childhood |
OMIM:617303 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Optic atrophy |
ORPHA:79330 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress |
ORPHA:226313 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Gowers sign, Ophthalmoplegia, Axial muscle weakness, Pleural effusion, Limb... |
OMIM:620369 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Optic atrophy, Ophthalmoparesis, Muscle weakness, ... |
ORPHA:255210 |
Tetrasomy 5P |
|
Cyanosis |
ORPHA:3309 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Neonatal death |
OMIM:608013 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary arterial hypertension |
ORPHA:363705 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Optic atrophy |
ORPHA:1555 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Muscle weakness |
ORPHA:319213 |
Double Outlet Right Ventricle |
|
Cyanosis |
ORPHA:3426 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Telangiectasia |
ORPHA:2038 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia |
OMIM:607143 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction |
OMIM:100800 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Q Fever |
|
Respiratory distress, Pneumonia, Cough, Pleural effusion, Muscle weakness |
ORPHA:781 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon |
ORPHA:210122 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Cyanosis, Optic neuropathy, Death in infancy |
OMIM:252010 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Ethylene Glycol Poisoning |
|
Facial palsy, Ophthalmoplegia, Tachypnea, Episodic respiratory distress, Abnormal pattern of resp... |
ORPHA:31826 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis |
ORPHA:555874 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia |
OMIM:616271 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:2131 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Optic atrophy, Stridor, Pulmonary arterial hypertension, Airway obstruction |
ORPHA:505248 |
Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Fatigable weakness |
ORPHA:60025 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory... |
ORPHA:536467 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Acrocyanosis, Cutis marmorata, Purpura |
ORPHA:183 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Pneumonia |
ORPHA:36234 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Optic atrophy |
OMIM:123790 |
Farber Disease |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:333 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Tarp Syndrome |
|
Cyanosis, Optic atrophy |
ORPHA:2886 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion, Muscle weakness |
ORPHA:3260 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Progressive muscle weakness, Distal muscle weakness |
OMIM:256810 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy |
OMIM:259900 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v... |
ORPHA:1199 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary arterial hypertension, Optic atrophy, Pulmonary embolism |
ORPHA:79282 |
Familial Dysautonomia |
|
Orthostatic hypotension, Acrocyanosis, Optic atrophy |
ORPHA:1764 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
Poems Syndrome |
|
Papilledema, Acrocyanosis |
ORPHA:2905 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Acrocyanosis |
OMIM:223900 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Optic atrophy |
ORPHA:137675 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Cough |
ORPHA:537 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema |
OMIM:224690 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Unilateral Polymicrogyria |
|
Cyanosis, Giant somatosensory evoked potentials |
ORPHA:268943 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Mgat2-Cdg |
|
Respiratory distress |
ORPHA:79329 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea |
ORPHA:17 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress |
ORPHA:177907 |
Primary Hyperoxaluria |
|
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor |
ORPHA:416 |
Listeriosis |
|
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia |
ORPHA:533 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... |
OMIM:600376 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea |
OMIM:261740 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:3206 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Decreased sensory nerve conduction velocity |
OMIM:615273 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Atrial Septal Defect, Coronary Sinus Type |
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Cyanosis |
ORPHA:99104 |
Lipodystrophy, Familial Partial, Type 2 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Adnp Syndrome |
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Respiratory distress, Aspiration |
ORPHA:404448 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Arboleda-Tham Syndrome |
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Respiratory distress, Neonatal respiratory distress, Optic atrophy, Recurrent aspiration pneumonia |
OMIM:616268 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Coccidioidomycosis |
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Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion |
ORPHA:228123 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea |
ORPHA:2330 |
Campomelic Dysplasia |
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Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc... |
OMIM:114290 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
Double Outlet Left Ventricle |
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Cyanosis |
ORPHA:3427 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Pitt-Hopkins Syndrome |
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Acrocyanosis, Aganglionic megacolon |
ORPHA:2896 |
Eisenmenger Syndrome |
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Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... |
ORPHA:97214 |
Atrial Septal Defect, Ostium Secundum Type |
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Cyanosis |
ORPHA:99103 |
Absence Of The Pulmonary Artery |
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Cyanosis, Hypocapnia |
ORPHA:980 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Rhinitis |
OMIM:305100 |
Postinfectious Vasculitis |
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Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th... |
ORPHA:48435 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Cyanosis, Abnormal autonomic nervous system physiology |
ORPHA:293987 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Heterotaxy, Visceral, 1, X-Linked |
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Cyanosis |
OMIM:306955 |
Gitelman Syndrome |
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Respiratory distress, Muscle weakness |
ORPHA:358 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Immunodeficiency 47 |
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Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Osteoglophonic Dysplasia |
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Respiratory distress |
OMIM:166250 |
Cleidocranial Dysplasia 1 |
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Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Hutchinson-Gilford Progeria Syndrome |
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Premature skin wrinkling, Prominent superficial blood vessels, Generalized abnormality of skin, C... |
ORPHA:740 |
Schinzel-Giedion Syndrome |
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Respiratory distress, Recurrent pneumonia, Aganglionic megacolon |
ORPHA:798 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2556 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Cyanosis |
ORPHA:99050 |
Leptospirosis |
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Respiratory distress, Papilledema, Pleural effusion, Cough |
ORPHA:509 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring |
ORPHA:466943 |
Classical Ehlers-Danlos Syndrome |
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Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi... |
ORPHA:287 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Dermatomyositis |
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Cutaneous photosensitivity, Acrocyanosis, Telangiectasia of the skin, Erythema |
ORPHA:221 |
Aicardi-Goutières Syndrome |
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Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Rubinstein-Taybi Syndrome 1 |
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Respiratory distress |
OMIM:180849 |
8Q24.3 Microdeletion Syndrome |
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Respiratory distress, Optic nerve hypoplasia |
ORPHA:508488 |
Tuberous Sclerosis Complex |
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Respiratory distress, Respiratory failure |
ORPHA:805 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
Cardiac Valvular Dysplasia 1 |
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Cyanosis |
OMIM:212093 |
Plague |
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Respiratory distress, Acute infectious pneumonia, Muscle weakness |
ORPHA:707 |
Doors Syndrome |
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Respiratory distress, Optic atrophy, Aspiration pneumonia |
ORPHA:79500 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Respiratory distress |
ORPHA:83617 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
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Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Truncus Arteriosus |
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Cyanosis |
ORPHA:3384 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress |
OMIM:617088 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis |
ORPHA:216694 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia |
ORPHA:273 |
Coffin-Lowry Syndrome |
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Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress |
ORPHA:2255 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Generalized Arterial Calcification Of Infancy |
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Cyanosis |
ORPHA:51608 |
Goodpasture Syndrome |
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Cyanosis |
OMIM:233450 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress |
ORPHA:480880 |
Hypermobile Ehlers-Danlos Syndrome |
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Decreased nerve conduction velocity, Acrocyanosis |
ORPHA:285 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Recurrent pneumonia |
ORPHA:99646 |
Alström Syndrome |
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Respiratory distress, Optic disc pallor, Chronic pulmonary obstruction, Recurrent pneumonia, Rest... |
ORPHA:64 |
Pmm2-Cdg |
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Respiratory distress, Aspiration pneumonia |
ORPHA:79318 |
Fetal Akinesia Deformation Sequence 2 |
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Respiratory insufficiency |
OMIM:618388 |
Fetal Akinesia Deformation Sequence |
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Respiratory insufficiency |
ORPHA:994 |