{"Name":"Familial abdominal aortic aneurysm","DiseaseID__c":"GARD:0009181","id":9181,"encodedName":"familial-abdominal-aortic-aneurysm","IsDeleted":false,"Disease_Name_Full__c":"Familial abdominal aortic aneurysm","Xref_IDs__c":"715364001; C4275172; MEDGEN:896628; MONDO:0007031; OMIMPS:100070; ORPHA:86","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007031","Disease_Description__c":"An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Familial abdominal aortic aneurysm","GARD_Synonym__c":"aneurysm, abdominal aortic; aortic aneurysm, familial abdominal; hereditary abdominal aortic aneurysm","Curated_Disease_Description_Source__c":"GARD:0009181","Curated_Disease_Description__c":"Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. When more than one family member is affected, it may be considered \"familial Abdominal aortic aneurysm.\"","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:86","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007031","ORPHANET_ID__c":"ORPHA:86","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aneurisma de la aorta abdominal, forma familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aneurisma de la aorta abdominal, forma familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98028","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":"Abdominal aortic aneurysms (AAAs) are aneurysms that occur in the part of the aorta that passes through the abdomen. They may occur at any age, but are most common in men between 50 and 80 years of age. Many people with an AAA have no symptoms, but some people have a pulsing sensation in the abdomen and/or pain in the back. If the aneurysm ruptures, it may cause deep, severe pain; nausea; vomiting; fast heart rate; clammy skin; and/or shock. The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. When more than one family member is affected, it may be considered \"familial Abdominal aortic aneurysm.\"","Curated_Disease_Description_Source__c":"GARD:0009181","GARD_Synonym__c":"aneurysm, abdominal aortic; aortic aneurysm, familial abdominal; hereditary abdominal aortic aneurysm","Name":"Familial abdominal aortic aneurysm","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Marfan Foundation","Website__c":"https://www.marfan.org/home"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"The John Ritter Foundation for Aortic Health","Website__c":"https://johnritterfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:86"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:86"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009181","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/86","Source__c":"C4275172; MONDO:0007031; ORPHA:86","Xref__c":"ORPHA:86"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715364001","Source__c":"C4275172; MONDO:0007031","Xref__c":"715364001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=896628","Source__c":"C4275172","Xref__c":"MEDGEN:896628"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4275172","Source__c":"C4275172","Xref__c":"C4275172"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS100070","Source__c":"MONDO:0007031","Xref__c":"OMIMPS:100070"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007031","Source__c":"GARD:0009181","Xref__c":"MONDO:0007031"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Vascular Medicine"]},"synonyms":["aneurysm, abdominal aortic"," aortic aneurysm, familial abdominal"," hereditary abdominal aortic aneurysm"]}