| Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
| Tumor Predisposition Syndrome 4 |
|
Stomach cancer |
OMIM:609265 |
| Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode |
OMIM:610992 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Intussusception |
|
Intussusception |
OMIM:147710 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
| Hereditary Methemoglobinemia |
|
Cyanosis |
ORPHA:621 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology |
ORPHA:281090 |
| Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal death, Death in infancy, Cyanosis |
OMIM:265120 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:70587 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
| Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Hsd10 Disease, Infantile Type |
|
Cyanosis |
ORPHA:391428 |
| Asbestos Intoxication |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:2302 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Muir-Torre Syndrome |
|
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:2257 |
| Chiari Malformation Type Ii |
|
Cyanosis |
OMIM:207950 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Cyanosis, Neonatal death |
OMIM:610921 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Acute Interstitial Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:79126 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis |
ORPHA:860 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
| Tetrasomy 5P |
|
Cyanosis |
ORPHA:3309 |
| Sepsis In Premature Infants |
|
Jaundice, Cyanosis, Petechiae, Purpura |
ORPHA:90051 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| 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 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
| 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 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis |
ORPHA:159 |
| Double Outlet Right Ventricle |
|
Cyanosis |
ORPHA:3426 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
| Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Cyanosis, Telangiectasia |
ORPHA:2038 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Cyanosis |
ORPHA:555874 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Acrocyanosis, Cutis marmorata, Purpura |
ORPHA:183 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in infancy, Cyanosis, Death in childhood |
OMIM:618426 |
| Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Cyanosis |
OMIM:610913 |
| Ethylene Glycol Poisoning |
|
Cyanosis |
ORPHA:31826 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis |
OMIM:252010 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
| Tarp Syndrome |
|
Cyanosis |
ORPHA:2886 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Pulmonary Alveolar Microlithiasis |
|
Hypoxemia, Cyanosis, Oxygen desaturation on exertion |
ORPHA:60025 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... |
OMIM:187300 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... |
OMIM:600376 |
| Histiocytoid Cardiomyopathy |
|
Cyanosis |
ORPHA:137675 |
| Esophageal Atresia |
|
Cyanosis |
ORPHA:1199 |
| Poems Syndrome |
|
Acrocyanosis |
ORPHA:2905 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis |
ORPHA:99104 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Nasal mucosa te... |
OMIM:610655 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis |
OMIM:223900 |
| Double Outlet Left Ventricle |
|
Cyanosis |
ORPHA:3427 |
| Congenital Tracheomalacia |
|
Cyanosis |
ORPHA:95430 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
| Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... |
OMIM:301068 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis |
ORPHA:99103 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Absence Of The Pulmonary Artery |
|
Cyanosis, Hypocapnia |
ORPHA:980 |
| Unilateral Polymicrogyria |
|
Cyanosis |
ORPHA:268943 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis |
OMIM:306955 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis |
ORPHA:2896 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature skin wrinkling, Prominent superficial blood vessels, Generalized abnormality of skin, C... |
ORPHA:740 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis |
ORPHA:99050 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis |
ORPHA:293987 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
| Postinfectious Vasculitis |
|
Palpable purpura, Acrocyanosis, Cutis marmorata, Vasculitis in the skin |
ORPHA:48435 |
| Dermatomyositis |
|
Cutaneous photosensitivity, Acrocyanosis, Telangiectasia of the skin, Erythema |
ORPHA:221 |
| Aicardi-Goutières Syndrome |
|
Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
| Aortic Arch Interruption |
|
Cyanosis |
ORPHA:2299 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
| Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
| Eisenmenger Syndrome |
|
Hypoxemia, Cyanosis |
ORPHA:97214 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
| Truncus Arteriosus |
|
Cyanosis |
ORPHA:3384 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Coffin-Lowry Syndrome |
|
Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Generalized Arterial Calcification Of Infancy |
|
Cyanosis |
ORPHA:51608 |
| Goodpasture Syndrome |
|
Cyanosis |
OMIM:233450 |
| Williams Syndrome |
|
Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Rectal prol... |
ORPHA:904 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Acrocyanosis |
ORPHA:285 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis |
ORPHA:99125 |
