| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ophthalmoparesis, Respiratory distress, Limb muscle weakness, Fatigable weakness, Bulbar palsy, R... |
OMIM:605809 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ophthalmoparesis, Respiratory distress, Fatigable weakness, Bulbar palsy, Respiratory insufficien... |
OMIM:254210 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy |
OMIM:254120 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Prolonged miniature endplate currents, Decreased miniature endplate potentials |
OMIM:616321 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Frontalis muscle weakness, Respiratory insufficiency due to m... |
OMIM:300580 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Abnormal motor nerve conduction velocity, Diaphragmatic weakness, Poor head... |
OMIM:614399 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Shoulder girdle muscle weakness, Decreased compound muscle action potential amplitude, Bulbar pal... |
OMIM:603511 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea |
ORPHA:141152 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ophthalmoparesis, Respiratory distress, Generalized muscle weakness, Progressive external ophthal... |
ORPHA:254875 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Generalized muscle weakness |
ORPHA:238329 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth |
OMIM:619751 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
External ophthalmoplegia, Respiratory distress, Nocturnal hypoventilation, Neck muscle weakness, ... |
OMIM:211530 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Foot dorsiflexor weakness, Paradoxical respiration, Diaphragmatic paralysis... |
OMIM:620011 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Favorable response of weakness to acetylcholine esterase inhibitors, Abnormal peripheral nervous ... |
ORPHA:353327 |
| Myopathy And Diabetes Mellitus |
|
Weakness of orbicularis oculi muscle, Shoulder girdle muscle weakness, Respiratory distress, Prog... |
ORPHA:2596 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Ophthalmoplegia, Abnormal pattern of respiration |
ORPHA:77260 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Adult Intestinal Botulism |
|
Dyspnea, Muscle weakness, Diaphragmatic paralysis, Respiratory insufficiency due to muscle weakness |
ORPHA:178487 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Proximal muscle weakness, Triceps weakness, Limb-girdle muscle weakness, Dy... |
ORPHA:86812 |
| Van Den Bosch Syndrome |
|
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... |
ORPHA:3417 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:267450 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Fatigable weakness of neck muscles, Decreased miniature endplate potentials, Facial pal... |
ORPHA:98913 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Respiratory distress, Proximal muscle weakness, Generaliz... |
ORPHA:1145 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Congenital Lobar Emphysema |
|
Respiratory distress |
ORPHA:1928 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Respiratory dis... |
OMIM:620375 |
| Immunodeficiency 95 |
|
Respiratory distress |
OMIM:619773 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Respiratory distress, Death in infancy, Tachypnea, Poor head control, Muscle weakness |
OMIM:614299 |
| 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 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Decreased miniature endplate potentials |
OMIM:608930 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea |
ORPHA:1832 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Prolonged miniature endplate currents |
OMIM:601462 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions |
ORPHA:137935 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Muscle weakness, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Optic atrophy, Death in infancy |
OMIM:615042 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Dyspnea, Central apnea, Diaphragmatic paralysis |
ORPHA:70589 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Muscle weakness |
ORPHA:254864 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Upper limb muscle weakness, Lower limb muscle weakness, Respiratory insuffi... |
ORPHA:1143 |
| Synaptic Congenital Myasthenic Syndromes |
|
Ophthalmoparesis, Respiratory distress, Neck muscle weakness, Hypoventilation, Generalized muscle... |
ORPHA:98915 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions |
ORPHA:91359 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Fatigable weakness of bulbar muscles, Fatigable weakness of swallowing muscles |
ORPHA:596 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Muscle weakness |
OMIM:616733 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress |
OMIM:619466 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Muscle weakness |
OMIM:160900 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Optic atrophy, Apnea |
ORPHA:79097 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, External ophthalmoplegia |
OMIM:612075 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea |
ORPHA:50251 |
| Stt3B-Cdg |
|
Respiratory distress, Optic atrophy |
ORPHA:370924 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Progressive muscle weakness, Muscle weakness, Proximal muscle weakness |
OMIM:620166 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Congenital Myasthenic Syndrome |
|
Neck muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, ... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Neck muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, ... |
ORPHA:98914 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress |
OMIM:245590 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea |
ORPHA:922 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea |
OMIM:263000 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Optic atrophy, Muscle weakness, Ophthalmoplegia |
ORPHA:254913 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:140896 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy |
ORPHA:289916 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Death in adolescence, Progressive muscle weakness, Respir... |
OMIM:615512 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy |
ORPHA:79312 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Muscle weakness, Proximal muscle weakness |
OMIM:212140 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Ophthalmoparesis, Respiratory distress, Death in childhood, Exertional dyspnea, Re... |
OMIM:220110 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle... |
ORPHA:206436 |
| Tetanus |
|
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... |
ORPHA:3299 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
| Oculopharyngodistal Myopathy 1 |
|
External ophthalmoplegia, Ophthalmoparesis, Respiratory distress, Foot dorsiflexor weakness, Prox... |
OMIM:164310 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:60032 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys... |
OMIM:610921 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Optic atrophy, Dyspnea, Muscle flaccidity |
ORPHA:2707 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Optic atrophy |
OMIM:608799 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
| Idiopathic Camptocormia |
|
Abnormal synaptic transmission at the neuromuscular junction, Amyotrophic lateral sclerosis, Fati... |
ORPHA:1320 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Death in infancy, Neonatal death |
OMIM:265120 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea |
ORPHA:97285 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Degeneration of anterior horn cells |
OMIM:271225 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Optic atrophy, Poor head control |
ORPHA:329178 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress |
ORPHA:2140 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Generalized muscle weakness |
ORPHA:330021 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Cyanosis |
ORPHA:391428 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachypnea |
ORPHA:264675 |
| Nipah Virus Disease |
|
Respiratory distress |
ORPHA:99825 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia |
ORPHA:70587 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:178320 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress |
ORPHA:100057 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Dyspnea |
ORPHA:411703 |
| Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Biotinidase Deficiency |
|
Optic atrophy, Respiratory distress, Apnea, Limb muscle weakness, Hyperventilation, Optic neuropathy |
ORPHA:79241 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Irregular respiration |
OMIM:604377 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Abnormal cranial nerve morphology |
ORPHA:990 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Cyanosis |
OMIM:261680 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Poor head control |
OMIM:615595 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility |
ORPHA:335 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Hypoxemia, Cyanosis |
ORPHA:2302 |
| Moebius Syndrome |
|
Respiratory distress, Facial diplegia |
OMIM:157900 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2759 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Muscle weakness, Neonatal death |
OMIM:231680 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Poor head control |
OMIM:619272 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Decreased amplitude of sensory action ... |
OMIM:618733 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea |
ORPHA:142 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress |
OMIM:612776 |
| Japanese Encephalitis |
|
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Muscle flaccidity, ... |
ORPHA:79139 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... |
ORPHA:348 |
| Idiopathic Pulmonary Fibrosis |
|
Orthodeoxia, Acrocyanosis |
ORPHA:2032 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Avian Influenza |
|
Respiratory distress, Tachypnea, Dyspnea, Miscarriage |
ORPHA:454836 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Proximal muscle weakness, Generalized muscle weakness, Respiratory insuffic... |
ORPHA:308552 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:2257 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Lower limb muscle weakness, Respiratory distress, Generalized muscle weakness, Diaphragmatic weak... |
ORPHA:365 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Abnormal neuron branching |
ORPHA:367 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Optic atrophy |
OMIM:619383 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in childhood, Death in infancy, Generalized muscle weakness |
OMIM:620278 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress |
OMIM:250940 |
| Slc35A1-Cdg |
|
Respiratory distress |
ORPHA:238459 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Muscle weakness |
OMIM:251000 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Fatigable weakness of skeletal muscles |
OMIM:617239 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
| Chitayat Syndrome |
|
Respiratory distress |
OMIM:617180 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Tularemia |
|
Respiratory distress |
ORPHA:3392 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:36238 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Alfadhel Syndrome |
|
Nasal flaring |
OMIM:620655 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea |
OMIM:237310 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress |
OMIM:606763 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Mogs-Cdg |
|
Optic atrophy, Respiratory distress, Apnea, Hypoventilation, Absent brainstem auditory responses |
ORPHA:79330 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Hypoxemia |
ORPHA:860 |
| Cryptococcosis |
|
Respiratory distress, Abnormal cranial nerve morphology, Limb muscle weakness, Ophthalmoplegia, D... |
ORPHA:1546 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Neonatal death |
OMIM:616482 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Purpura, Urticaria |
ORPHA:343 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:314655 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress |
ORPHA:141083 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Optic atrophy, Death in childhood |
OMIM:617303 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Gowers sign, Generalized muscle weakness |
OMIM:616326 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress |
ORPHA:226313 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Ophthalmoparesis, Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation,... |
ORPHA:255210 |
| Meconium Aspiration Syndrome |
|
Respiratory distress |
ORPHA:70588 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress |
OMIM:202650 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617895 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Tetrasomy 5P |
|
Cyanosis |
ORPHA:3309 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Limb muscle weakness, Axial muscle weakness, Ophthalmoplegia, Gowers sign |
OMIM:620369 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
| Sepsis In Premature Infants |
|
Cyanosis, Jaundice, Purpura, Petechiae |
ORPHA:90051 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Neonatal death |
OMIM:608013 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Tachypnea |
OMIM:610978 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy |
OMIM:618426 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Optic atrophy |
ORPHA:1555 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
| Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Cyanosis, Hypoxemia |
ORPHA:2038 |
| Double Outlet Right Ventricle |
|
Cyanosis |
ORPHA:3426 |
| Necrotizing Enterocolitis |
|
Cyanosis |
ORPHA:391673 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Kniest Dysplasia |
|
Respiratory distress |
OMIM:156550 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:363705 |
| Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress |
ORPHA:50810 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy |
OMIM:617478 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Optic neuropathy, Cyanosis, Death in infancy |
OMIM:252010 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
OMIM:608022 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress |
OMIM:607143 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia |
ORPHA:555874 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Fatigable weakness |
ORPHA:60025 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:610913 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
| Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Episodic respiratory distress, Ophthalmoplegia, Tachypnea, Facia... |
ORPHA:31826 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Achondroplasia |
|
Respiratory distress, Death in infancy |
OMIM:100800 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Acrocyanosis, Cutis marmorata, Purpura, Urticaria |
ORPHA:183 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Congenital Enterovirus Infection |
|
Respiratory distress |
ORPHA:292 |
| Neuroblastoma |
|
Respiratory distress, Horner syndrome |
ORPHA:635 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2519 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Death in childhood |
OMIM:613848 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Optic atrophy |
OMIM:123790 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress |
OMIM:616271 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Muscle weakness |
ORPHA:319213 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:2131 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon |
ORPHA:210122 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:3015 |
| Poems Syndrome |
|
Papilledema, Acrocyanosis, Plethora |
ORPHA:2905 |
| Tarp Syndrome |
|
Optic atrophy, Cyanosis |
ORPHA:2886 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Progressive muscle weakness, Distal muscle weakness |
OMIM:256810 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress |
OMIM:217980 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea |
ORPHA:100050 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress |
OMIM:620306 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Tachypnea |
ORPHA:36234 |
| Farber Disease |
|
Respiratory distress |
ORPHA:333 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Familial Dysautonomia |
|
Optic atrophy, Acrocyanosis, Orthostatic hypotension |
ORPHA:1764 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Cyanosis |
OMIM:620423 |
| Cardiogenic Shock |
|
Cyanosis, Hypoxemia |
ORPHA:97292 |
| Q Fever |
|
Respiratory distress, Muscle weakness |
ORPHA:781 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Orthostatic hypotension |
OMIM:223900 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress |
ORPHA:93259 |
| Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress |
OMIM:183900 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Cutis marmorata, Acrocyanosis, Optic neuropathy |
OMIM:259900 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress |
ORPHA:93260 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Optic atrophy |
ORPHA:505248 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Peripapillary atrophy |
ORPHA:536467 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Cyanosis |
ORPHA:137675 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:3342 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Unilateral Polymicrogyria |
|
Cyanosis, Giant somatosensory evoked potentials |
ORPHA:268943 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Mgat2-Cdg |
|
Respiratory distress |
ORPHA:79329 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Optic atrophy |
ORPHA:79282 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... |
OMIM:187300 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress |
ORPHA:209905 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Dyspnea, Muscle weakness |
ORPHA:3260 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea |
ORPHA:17 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress |
ORPHA:177907 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Dyspnea, Muscle weakness |
ORPHA:340 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy |
OMIM:224690 |
| Primary Hyperoxaluria |
|
Optic atrophy, Optic disc pallor, Cutis marmorata, Acrocyanosis |
ORPHA:416 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Decreased sensory nerve conduction velocity |
OMIM:615273 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress |
ORPHA:37042 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress |
OMIM:260400 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... |
OMIM:610655 |
| Cocaine Intoxication |
|
Respiratory distress, Hyperventilation, Tachypnea |
ORPHA:90068 |
| Esophageal Atresia |
|
Cyanosis |
ORPHA:1199 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
| Colchicine Poisoning |
|
Respiratory distress |
ORPHA:31824 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
| Kasabach-Merritt Phenomenon |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Double Outlet Left Ventricle |
|
Cyanosis |
ORPHA:3427 |
| Listeriosis |
|
Respiratory distress, Miscarriage |
ORPHA:533 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:3206 |
| Adnp Syndrome |
|
Respiratory distress |
ORPHA:404448 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Acrocyanosis |
ORPHA:2896 |
| Congenital Tracheomalacia |
|
Cyanosis |
ORPHA:95430 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress |
ORPHA:537 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Optic atrophy |
OMIM:616268 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2554 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Abnormal autonomic nervous system physiology |
ORPHA:293987 |
| Absence Of The Pulmonary Artery |
|
Hypocapnia, Cyanosis |
ORPHA:980 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Vasculitis in the skin, Abnormality of the peripheral nervous ... |
ORPHA:48435 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis |
OMIM:306955 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Gitelman Syndrome |
|
Respiratory distress, Muscle weakness |
ORPHA:358 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress |
OMIM:305100 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... |
ORPHA:740 |
| Coccidioidomycosis |
|
Respiratory distress |
ORPHA:228123 |
| Campomelic Dysplasia |
|
Respiratory distress, Apnea |
OMIM:114290 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Aganglionic megacolon |
ORPHA:798 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2556 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Scimitar Syndrome |
|
Respiratory distress |
ORPHA:185 |
| Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... |
ORPHA:287 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress |
OMIM:119600 |
| Dermatomyositis |
|
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiectasia of the ... |
ORPHA:221 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Dyspnea |
ORPHA:79404 |
| Nocardiosis |
|
Respiratory distress, Dyspnea |
ORPHA:31204 |
| Aicardi-Goutières Syndrome |
|
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis |
ORPHA:51 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress |
OMIM:180849 |
| Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Nasal flaring |
ORPHA:466943 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Optic nerve hypoplasia |
ORPHA:508488 |
| Eisenmenger Syndrome |
|
Respiratory distress, Exertional dyspnea, Muscle weakness |
ORPHA:97214 |
| Doors Syndrome |
|
Respiratory distress, Optic atrophy |
ORPHA:79500 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Leptospirosis |
|
Respiratory distress, Papilledema |
ORPHA:509 |
| Tuberous Sclerosis Complex |
|
Respiratory distress |
ORPHA:805 |
| Plague |
|
Respiratory distress, Muscle weakness |
ORPHA:707 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress |
ORPHA:83617 |
| Truncus Arteriosus |
|
Cyanosis |
ORPHA:3384 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Acrocyanosis |
OMIM:303600 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2255 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Acrocyanosis, Bruising susceptibility, Abnormal autonomic ne... |
ORPHA:285 |
| Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis |
ORPHA:51608 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress |
ORPHA:480880 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress |
ORPHA:95455 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress |
OMIM:614748 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy |
ORPHA:99125 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress |
ORPHA:3404 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress |
ORPHA:99646 |
| Alström Syndrome |
|
Respiratory distress, Optic disc pallor |
ORPHA:64 |
| Pmm2-Cdg |
|
Respiratory distress |
ORPHA:79318 |
| Fetal Akinesia Deformation Sequence 2 |
|
|
OMIM:618388 |
| Fetal Akinesia Deformation Sequence |
|
|
ORPHA:994 |
