Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Cyanosis |
ORPHA:91130 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Cyanosis |
OMIM:263000 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Death in infancy, Failure to thrive, Petechiae |
OMIM:602473 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Hypoglycemia |
OMIM:240200 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age |
ORPHA:621 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Glucose intolerance, Failure to thrive, Impaired glucose tolerance |
OMIM:614407 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Failure to thrive, Cyanosis |
OMIM:265120 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Failure to thrive, Cyanosis |
ORPHA:91359 |
Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Cyanosis, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Failure to thrive, Petechiae |
ORPHA:51188 |
Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis, Weight loss |
ORPHA:1302 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Maternal diabetes, Hypoxemia, Failure to thrive |
ORPHA:860 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, Failure to thrive in infancy |
ORPHA:284417 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Cyanosis |
ORPHA:444013 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
Primary Pulmonary Hypoplasia |
|
Hypoxemia, Failure to thrive, Cyanosis |
ORPHA:2257 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Hypoglycemia |
ORPHA:391428 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Cyanosis, Hypoxemia, Neonatal death, Failure to thrive |
OMIM:610921 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis, Weight loss |
ORPHA:747 |
Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Cyanosis |
ORPHA:3304 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Fasting hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:159 |
Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Jaundice, Decreased body weight, Petechiae, Purpura |
ORPHA:90051 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
Tetrasomy 5P |
|
Failure to thrive, Cyanosis |
ORPHA:3309 |
Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Double Outlet Right Ventricle |
|
Failure to thrive, Cyanosis |
ORPHA:3426 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis, Small for gestational age |
ORPHA:555874 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
Fucosidosis |
|
Acrocyanosis, Failure to thrive, Vascular skin abnormality |
ORPHA:349 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Failure to thrive, Cyanosis, Death in childhood |
OMIM:618426 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Failure to thrive, Cyanosis |
OMIM:610913 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Failure to thrive, Hypoglycemia, Cyanosis |
OMIM:252010 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura |
ORPHA:183 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Telangiectasia |
ORPHA:2038 |
Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
Poems Syndrome |
|
Diabetes mellitus, Acrocyanosis, Weight loss |
ORPHA:2905 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Esophageal Atresia |
|
Cyanosis, Small for gestational age, Failure to thrive in infancy, Maternal diabetes |
ORPHA:1199 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Cyanosis |
ORPHA:1329 |
Double Outlet Left Ventricle |
|
Failure to thrive, Cyanosis |
ORPHA:3427 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hypoglycemia, Cyanosis |
ORPHA:137675 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Myasthenia Gravis |
|
Acrocyanosis, Glycosuria |
ORPHA:589 |
Tarp Syndrome |
|
Failure to thrive, Cyanosis |
ORPHA:2886 |
Atrial Septal Defect, Ostium Primum Type |
|
Failure to thrive, Cyanosis |
ORPHA:99106 |
Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion, Weight loss |
ORPHA:60025 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Neonatal hypoglycemia |
OMIM:261740 |
Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Cyanosis |
ORPHA:99050 |
Congenital Tracheomalacia |
|
Failure to thrive, Cyanosis |
ORPHA:95430 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Weight loss, Severe failure to... |
ORPHA:740 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
Primary Hyperoxaluria |
|
Acrocyanosis, Failure to thrive, Cutis marmorata |
ORPHA:416 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... |
OMIM:600376 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Cyanosis, Obesity |
ORPHA:293987 |
Pitt-Hopkins Syndrome |
|
Acrocyanosis, Failure to thrive |
ORPHA:2896 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Cyanosis |
OMIM:306955 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Weight loss, Acrocyanosis, Cutaneous photosensitivity |
ORPHA:221 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Weight loss, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Hypocapnia |
ORPHA:980 |
Unilateral Polymicrogyria |
|
Cyanosis |
ORPHA:268943 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
Goodpasture Syndrome |
|
Cyanosis, Weight loss |
OMIM:233450 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Failure to thrive, Cyanosis |
ORPHA:216694 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata, Decreased body weight |
OMIM:303600 |
Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:97214 |
Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Failure to thrive in infancy |
ORPHA:51608 |
Truncus Arteriosus |
|
Cyanosis |
ORPHA:3384 |
Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis |
ORPHA:285 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis |
ORPHA:99125 |