| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Congenital Heart Block |
|
Cyanosis, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atriovent... |
ORPHA:60041 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy |
OMIM:207950 |
| Buerger Disease |
|
Vasculitis, Acrocyanosis |
ORPHA:36258 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Cyanosis, Congestive heart failure, Pulmonic stenosis, Pulmonary arteria... |
ORPHA:2414 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| Acquired Methemoglobinemia |
|
Tachycardia, Cyanosis, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Hypotension |
ORPHA:70587 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
| Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangiectas... |
ORPHA:2038 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Cyanosis, Abnormally loud pulmonic component of the seco... |
ORPHA:99106 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Abnormally loud pulmonic component of the second heart sound, Cyanosis, Left... |
ORPHA:99104 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Cyanosis, Left-to-right shunt, Right ventricular failure, Third heart ... |
ORPHA:1329 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob... |
ORPHA:860 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Cyanosis |
OMIM:610773 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Congenital Fibrinogen Deficiency |
|
Tachycardia, Cyanosis, Bruising susceptibility, Internal hemorrhage, Subcutaneous hemorrhage |
ORPHA:335 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... |
ORPHA:444013 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage |
ORPHA:49566 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Tachycardia, Cyanosis |
ORPHA:330012 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Criss-Cross Heart |
|
Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Supravalvular aortic stenosis |
ORPHA:1461 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat... |
OMIM:261740 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M... |
ORPHA:2326 |
| Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
| Asbestos Intoxication |
|
Cyanosis, Right ventricular failure, Hypoxemia, Hepatojugular reflux, Oxygen desaturation on exer... |
ORPHA:2302 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Intrauterine growth retardation, Cyanotic episode |
ORPHA:284417 |
| Restrictive Dermopathy 2 |
|
Intrauterine growth retardation, Cyanosis |
OMIM:619793 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Tetrasomy 5P |
|
Cyanosis, Congestive heart failure, Hydrocephalus, Heart murmur, Pulmonary arterial hypertension |
ORPHA:3309 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Atrioventricular block, Bradycardia |
OMIM:614407 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Diffuse alveolar hemorrhage, Right ventricular failure, Hypoxemia, Elevated pulmonary a... |
ORPHA:199241 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:391428 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high... |
ORPHA:2299 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cyanosis, Hypoxemia, Intrauterine growth retardation, Systolic heart murmur |
ORPHA:555874 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia |
ORPHA:159 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Intrauterine growth retardation, Cyanosis |
ORPHA:2257 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Junct... |
ORPHA:137675 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Heart murmur, Pulmonic stenosis |
ORPHA:3426 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Transient ischemic attack, Myocardial infar... |
ORPHA:183 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Cyanosis, Mitral regurgitation, Holoprosencephaly |
OMIM:619879 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Heart murmur |
ORPHA:1867 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Hypertension, Cyanosis |
ORPHA:79126 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, High-output congestive... |
OMIM:187300 |
| Eisenmenger Syndrome |
|
Cyanosis, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrillation, Right ventricular fa... |
ORPHA:97214 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Pulmonic stenosis |
ORPHA:3304 |
| Sepsis In Premature Infants |
|
Tachycardia, Cyanosis, Jaundice, Bradycardia, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur... |
ORPHA:31826 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Congestive heart failur... |
ORPHA:980 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis |
OMIM:265120 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Left-to-right shunt, Congestive heart failure, Left ventricular outflow tract obstructi... |
ORPHA:99050 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer |
OMIM:145981 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Alg3-Cdg |
|
Cardiomyopathy, Neural tube defect |
ORPHA:79321 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis |
OMIM:619580 |
| Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Double Outlet Left Ventricle |
|
Cyanosis, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Pulmonary arterial hypertension, Cyanosis |
OMIM:610913 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
| Congenital Myasthenic Syndrome |
|
Cyanosis |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98914 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Systolic heart murmur |
OMIM:617478 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla... |
OMIM:259900 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hematochezia, ... |
ORPHA:913 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect... |
ORPHA:740 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
OMIM:223900 |
| Primary Hyperoxaluria |
|
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... |
ORPHA:416 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Pulmonic stenosis, Mitral stenosis |
OMIM:306955 |
| Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Erythema, Vasculiti... |
ORPHA:221 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption |
ORPHA:2796 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Acrocyanosis |
ORPHA:589 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Hypoxemia, Oxygen d... |
ORPHA:60025 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg... |
OMIM:212093 |
| Multiple Endocrine Neoplasia, Type I |
|
Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
OMIM:131100 |
| Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Acrocyanosis, Tachycardia |
ORPHA:1764 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Cyanosis |
OMIM:610921 |
| Tarp Syndrome |
|
Intrauterine growth retardation, Cyanosis |
ORPHA:2886 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer |
OMIM:600740 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Cyanosis, Concentric hypertrophic cardiomyopathy |
OMIM:252010 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Acrocyanosis |
ORPHA:2905 |
| Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis |
ORPHA:268943 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer |
ORPHA:98849 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Raynaud phenomenon, Cardiomyopathy, Hyper... |
ORPHA:48435 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Cyanosis, Abnormal heart valve physiology, Pulmonic stenosis, ... |
ORPHA:3384 |
| Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Cyanosis |
ORPHA:95430 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Arterial rupture, Mitra... |
ORPHA:287 |
| Esophageal Atresia |
|
Cyanosis |
ORPHA:1199 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
| Multiple Endocrine Neoplasia Type 4 |
|
Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
ORPHA:276152 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Hematemesis, Melena, Zollinger-Ellison syndrome, Gastroesophageal r... |
ORPHA:652 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Raynaud phenomenon, Prolonged neonatal jaundice, Hypertrophic cardiomyopathy, Ac... |
ORPHA:51 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Peptic ulcer, Dysphagia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Peptic ulcer, Dysphagia |
ORPHA:143 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
| Gaisböck Syndrome |
|
Peptic ulcer |
ORPHA:90041 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricul... |
ORPHA:51608 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
| Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer |
ORPHA:405 |
| Williams Syndrome |
|
Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Rectal prol... |
ORPHA:904 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
| Congenital Tracheal Stenosis |
|
Cyanosis |
ORPHA:141127 |
| Goodpasture Syndrome |
|
Cyanosis, Pulmonary hemorrhage |
OMIM:233450 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Cyanosis, Right ventricular failure, Low-output congestive ... |
ORPHA:99125 |
| Hypoplasminogenemia |
|
Duodenal ulcer |
ORPHA:722 |
| Coffin-Lowry Syndrome |
|
Mitral regurgitation, Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |
| Spondyloocular Syndrome |
|
Duodenal ulcer |
OMIM:605822 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Umbilical hernia, Arrhythmia, Acrocyanosis |
ORPHA:285 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric ulcer, High palate, Intussusception |
OMIM:135900 |
| Semilobar Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal heart rate variability, Neural tube defect, Hydrocephalus |
ORPHA:93924 |
| Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect |
ORPHA:798 |
