{"Name":"Gardner syndrome","DiseaseID__c":"GARD:0006482","id":6482,"encodedName":"gardner-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Gardner syndrome","Xref_IDs__c":"60876000; C0017097; C6728; D005736; MEDGEN:6547; MONDO:0019336","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0019336","Disease_Description__c":"Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.","GARD_Name__c":"Gardner syndrome","GARD_Synonym__c":"gardner's syndrome; gs; gs - gardner's syndrome; intestinal polyposis, osteomas, sebaceous cysts; polyposis coli and multiple hard and soft tissue tumors","Curated_Disease_Description_Source__c":"GARD:0006482","Curated_Disease_Description__c":"Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes in the APC gene and inherited in an autosomal dominant manner. These may include high risk screening, prophylactic surgeries and/or certain types of medications.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:79665","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019336","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:79665","Spanish_Description__c":"El síndrome de Gardner es una forma grave de poliposis adenomatosa familiar caracterizada por múltiples adenomas en el colon y el recto, asociados a rasgos extracolónicos prominentes, como osteomas y múltiples tumores de la piel y de tejidos blandos.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Gardner syndrome is a form of familial adenomatous polyposis (FAP) that is characterized by multiple colorectal polyps and various types of tumors, both benign (noncancerous) and malignant (cancerous). They are also at an increased risk of developing other FAP-related cancers, such as those of the small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland. Other signs and symptoms of Gardner syndrome include dental abnormalities; osteomas (benign bone growths); various skin abnormalities such as epidermoid cysts, fibromas (a benign tumor of the connective tissue), and lipomas; and desmoid tumors. It is caused by changes in the APC gene and inherited in an autosomal dominant manner. These may include high risk screening, prophylactic surgeries and/or certain types of medications.","Curated_Disease_Description_Source__c":"GARD:0006482","GARD_Synonym__c":"gardner's syndrome; gs; gs - gardner's syndrome; intestinal polyposis, osteomas, sebaceous cysts; polyposis coli and multiple hard and soft tissue tumors","Name":"Gardner syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Fight Colorectal Cancer","Website__c":"https://fightcolorectalcancer.org/"},{"Account_Name__c":"Colon Cancer Alliance","Website__c":"https://www.ccalliance.org/"},{"Account_Name__c":"Desmoid Tumor Research Foundation","Website__c":"https://dtrf.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0017097"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006482","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1345","Source__c":"Gene Review","Xref__c":"NBK1345"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017097","Source__c":"C0017097","Xref__c":"C0017097"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6547","Source__c":"C0017097","Xref__c":"MEDGEN:6547"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60876000","Source__c":"C0017097; MONDO:0019336","Xref__c":"60876000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6728","Source__c":"C0017097; MONDO:0019336","Xref__c":"C6728"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005736","Source__c":"C0017097; MONDO:0019336","Xref__c":"D005736"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019336","Source__c":"GARD:0006482","Xref__c":"MONDO:0019336"}],"tags":{},"synonyms":["gardner's syndrome"," gs"," gs - gardner's syndrome"," intestinal polyposis, osteomas, sebaceous cysts"," polyposis coli and multiple hard and soft tissue tumors"]}